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: PA2825489601

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 647822

ClinVar RCV Id: RCV002495081 RCV001841983 RCV003768502

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Arg1316Gln	CA062577 NM_001099404.2:c.3947G>A