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: PA2827782942

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1175963

ClinVar RCV Id: RCV001531323

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Lys1229_Val1230del	CA2499215174 NM_001353957.2:c.3685_3690del