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: PA2825939968

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67628

ClinVar RCV Id: RCV000058384 RCV002281902 RCV001569891 RCV001841769 RCV004019029 RCV004528263

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Gly35Ser	CA014210 NM_001160160.2:c.103G>A