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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:
CA2346405601
Gene: AVP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3083156C= , CM000682.2:g.3083156C=
GRCh38
NC_000020.10:g.3063802C= , CM000682.1:g.3063802C=
GRCh37
NC_000020.9:g.3011802C=
NCBI36
NG_008663.1:g.6569G= , LRG_715:g.6569G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380293.3:c.143G=
MANE Select
ENSP00000369647.3:p.Gly48=
NM_000490.4:c.143G= , LRG_715t1:c.143G=
NP_000481.2:p.Gly48=
XM_011529267.1:c.143G=
XP_011527569.1:p.Gly48=
XM_011529267.2:c.143G=
XP_011527569.1:p.Gly48=
NM_000490.5:c.143G=
MANE Select
NP_000481.2:p.Gly48=
Search 100 bp 5'
Search 100 bp 3'