ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923381
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67904
ClinVar RCV Id:
RCV000058684
RCV000756618
RCV000709759
RCV001201272
RCV001842366
RCV003162459
RCV004537262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Leu1482Val
CA018357
NM_001354701.2:c.4444C>G