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: PA2825131275

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1409689

ClinVar RCV Id: RCV003657448

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Cys1340Arg	CA352147447 NM_000335.5:c.4018T>C