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: PA2573251038

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1473513

ClinVar RCV Id: RCV002005275

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala420Pro	CA349070867 NM_006920.6:c.1258G>C