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: PA2499275268

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1098587

ClinVar RCV Id: RCV001420525

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Val422Leu	CA349070860 NM_006920.6:c.1264G>T CA349070861 NM_006920.6:c.1264G>C