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: PA2499251720

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1066555

ClinVar RCV Id: RCV001377575

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Pro705Ser	CA349048587 NM_001353961.2:c.2113C>T