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: PA2827775303

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2692373

ClinVar RCV Id: RCV003494564

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Gly58Val	CA349242938 NM_001353954.2:c.173G>T