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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:
CA2326737231
Gene: NCAN
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.19219028_19219029delinsCT , CM000681.2:g.19219028_19219029delinsCT
GRCh38
NC_000019.9:g.19329837_19329838delinsCT , CM000681.1:g.19329837_19329838delinsCT
GRCh37
NC_000019.8:g.19190837_19190838delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000252575.11:c.187_188delinsCT
MANE Select
ENSP00000252575.4:p.Leu63=
ENST00000252575.10:c.187_188delinsCT
ENSP00000252575.4:p.Leu63=
NM_004386.2:c.187_188delinsCT
NP_004377.2:p.Leu63=
XM_005259747.1:c.187_188delinsCT
XP_005259804.1:p.Leu63=
NM_004386.3:c.187_188delinsCT
MANE Select
NP_004377.2:p.Leu63=
Search 100 bp 5'
Search 100 bp 3'