ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923741
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67965
ClinVar RCV Id:
RCV000058751
RCV000762372
RCV000824908
RCV001842380
RCV004019060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1720Trp
CA018994
NM_001354701.2:c.5158C>T