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: PA177764

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67882

ClinVar RCV Id: RCV000058662 RCV000151779 RCV000252530 RCV001842361 RCV003137599 RCV002490659 RCV003488370

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Ile1447Leu	CA018152 NM_000335.5:c.4339A>C