ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181493
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178130
ClinVar RCV Id:
RCV000154839
RCV000729899
RCV001145076
RCV001147028
RCV000852964
RCV001147029
RCV001842482
RCV001145077
RCV001147026
RCV001147027
RCV002321640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala1087Thr
CA016979
NM_000335.5:c.3259G>A