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: PA2827752869

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93645

ClinVar RCV Id: RCV000079577 RCV000701047 RCV003155068 RCV002345392

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Phe1259Ser	CA285448 NM_001353948.2:c.3776T>C