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: PA2825496236

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_001092875.1:p.Met1480Val	CA018339 NM_001099405.2:c.4438A>G