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: PA108497

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67795

ClinVar RCV Id: RCV000058569 RCV000587127 RCV001842336 RCV002453376 RCV002498344

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Thr1131Ile	CA017114 NM_198056.3:c.3392C>T