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: PA2825495367

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2120763

ClinVar RCV Id: RCV003658693

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Arg1175Gly	CA352138282 NM_001099405.2:c.3523C>G