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: PA307131

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67996

ClinVar RCV Id: RCV000058790 RCV000987239 RCV001842387 RCV002054907

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Ala185Thr	CA019331 NM_000335.5:c.553G>A