Allele Registry

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.

Canonical Allele Identifier: PA108481

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12883

ClinVar RCV Id: RCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Thr875Met	CA256587 NM_001165963.4:c.2624C>T