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: PA2827292138

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 195689

ClinVar RCV Id: RCV000285972

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Asn1329Asp	CA242214 NM_001330260.2:c.3985A>G