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: PA2825489860

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1738212

ClinVar RCV Id: RCV002333191

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Gln1383Pro	CA352146708 NM_001099404.2:c.4148A>C