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: PA2827924054

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9381

ClinVar RCV Id: RCV000009978 RCV000058806 RCV000420298 RCV001841233 RCV002251424 RCV004017231

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Ala1905Thr	CA019460 NM_001354701.2:c.5713G>A