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: PA330093

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67901

ClinVar RCV Id: RCV000058681 RCV000483937

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Met1497Val	CA018339 NM_000335.5:c.4489A>G