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: PA265423

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67855

ClinVar RCV Id: RCV000058634

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Ile1349Thr	CA017817 NM_000335.5:c.4046T>C