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: PA265396

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67850

ClinVar RCV Id: RCV000058629 RCV003541452 RCV003996539

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Phe1344Leu	CA017772 NM_198056.3:c.4030T>C CA352147403 NM_198056.3:c.4032C>G CA352147404 NM_198056.3:c.4032C>A