ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218891
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67770
ClinVar RCV Id:
RCV000058540
RCV000417955
RCV001147137
RCV001147139
RCV001147138
RCV001147140
RCV001147141
RCV001147142
RCV001842323
RCV004019045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg986Gln
CA016672
NM_001099404.2:c.2957G>A