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: PA265325

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67820

ClinVar RCV Id: RCV000058595 RCV000455383 RCV000618887 RCV000778920 RCV001146728 RCV001147623 RCV001146729 RCV001147622 RCV001508492 RCV001842347

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Asp1242Asn	CA017472 NM_000335.5:c.3724G>A