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: PA2827921666

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67632

ClinVar RCV Id: RCV000058388 RCV000182956 RCV000588086 RCV000678958 RCV002408568

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Asp356Asn	CA014277 NM_001354701.2:c.1066G>A