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: PA265665

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67919

ClinVar RCV Id: RCV000058700

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Leu1581Pro	CA018511 NM_000335.5:c.4742T>C