ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827922338
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67732
ClinVar RCV Id:
RCV000058501
RCV000497380
RCV000620361
RCV001258075
RCV000824760
RCV001842314
RCV003322595
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg814Gln
CA016182
NM_001354701.2:c.2441G>A