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: PA2827761658

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2710218

ClinVar RCV Id: RCV003589968

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Glu1799Asp	CA349067612 NM_001353949.2:c.5397G>T CA349067613 NM_001353949.2:c.5397G>C