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: PA2742029862

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2706813

ClinVar RCV Id: RCV003552168

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Met1838Thr	CA352140950 NM_198056.3:c.5513T>C