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: PA2829676420

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 834858

ClinVar RCV Id: RCV001035628

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1716Tyr	CA349068756 NM_006920.6:c.5146G>T