ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307214
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67626
ClinVar RCV Id:
RCV000058382
RCV000991046
RCV001841767
RCV001723640
RCV002362694
RCV002504968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg340Gln
CA014177
NM_001099404.2:c.1019G>A