ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922180
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67711
ClinVar RCV Id:
RCV000058478
RCV001811346
RCV003162455
RCV003224132
RCV001842309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala691Thr
CA015822
NM_001354701.2:c.2071G>A