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: PA2826258544

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93629

ClinVar RCV Id: RCV000079555 RCV000706938

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ile407Thr	CA221555 NM_001202435.3:c.1220T>C