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: PA2499303184

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1098787

ClinVar RCV Id: RCV001420834

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Arg1316Pro	CA352148090 NM_198056.3:c.3947G>C