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: PA329903

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67730

ClinVar RCV Id: RCV000058499 RCV003996529

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Arg808Pro	CA016130 NM_000335.5:c.2423G>C