ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145122
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67939
ClinVar RCV Id:
RCV000058723
RCV000519341
RCV001258072
RCV001530198
RCV002336214
RCV001787861
RCV003450919
RCV003591672
RCV003996546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Arg1631His
CA018735
NM_000335.5:c.4892G>A