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: PA307973

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201570

ClinVar RCV Id: RCV000183164 RCV000496602 RCV000618968

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Asn1379del	CA017894 NM_000335.5:c.4137_4139del