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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA361339147
Gene: PCDHGA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.140710609G>T (hg19)
chr5:g.141331042G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.141331042G>T , CM000667.2:g.141331042G>T
GRCh38
NC_000005.9:g.140710609G>T , CM000667.1:g.140710609G>T
GRCh37
NC_000005.8:g.140690793G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000517417.3:c.358G>T
MANE Select
ENSP00000431083.1:p.Glu120Ter
ENST00000378105.4:c.358G>T
ENSP00000367345.3:p.Glu120Ter
ENST00000517417.2:c.358G>T
ENSP00000431083.1:p.Glu120Ter
NM_018912.2:c.358G>T
NP_061735.1:p.Glu120Ter
NM_031993.1:c.358G>T
NP_114382.1:p.Glu120Ter
NM_018912.3:c.358G>T
MANE Select
NP_061735.1:p.Glu120Ter
NM_031993.2:c.358G>T
NP_114382.1:p.Glu120Ter
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