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