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: PA330305

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68038

ClinVar RCV Id: RCV000058841

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Ile239Val	CA019755 NM_198056.3:c.715A>G