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: PA2826260458

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1745814

ClinVar RCV Id: RCV002338406

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Gly1725_Trp1726del	CA2580064420 NM_001202435.3:c.5174_5179del