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: PA329820

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67672

ClinVar RCV Id: RCV000058435 RCV000677695 RCV001193949 RCV000987228 RCV001556314 RCV001293110 RCV001842288 RCV003352762

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Arg535Gln	CA015071 NM_000335.5:c.1604G>A