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: PA2741866841

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2571621

ClinVar RCV Id: RCV003313331

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ser946Tyr	CA349068298 NM_001353961.2:c.2837C>A