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: PA2827790380

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12890

ClinVar RCV Id: RCV000032605 RCV000794577

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu172Phe	CA281911 NM_001353961.2:c.514C>T