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: PA2825131510

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 3070688

ClinVar RCV Id: RCV004013198

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Leu1443Arg	CA352145457 NM_000335.5:c.4328T>G