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: PA307201

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201446

ClinVar RCV Id: RCV000182952 RCV001842894

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Asp297Asn	CA019914 NM_000335.5:c.889G>A