ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923950
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628763
ClinVar RCV Id:
RCV001056733
RCV001841896
RCV002343624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1841Lys
CA352140766
NM_001354701.2:c.5522G>A