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: PA317499

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206838

ClinVar RCV Id: RCV000188963 RCV000818881 RCV001254862 RCV002517889

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Pro1508Thr	CA317497 NM_006920.6:c.4522C>A