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: PA211843

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68037

ClinVar RCV Id: RCV000058840 RCV000148856 RCV000246365 RCV000724673 RCV000987235 RCV001842410

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Val232Ile	CA019745 NM_000335.5:c.694G>A