ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825129767
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921748
ClinVar RCV Id:
RCV001843091
RCV001327828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Arg693His
CA059728
NM_000335.5:c.2078G>A