ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827924111
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68015
ClinVar RCV Id:
RCV000058812
RCV000148844
RCV000212995
RCV000987194
RCV001842397
RCV002354251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1939Gln
CA019519
NM_001354701.2:c.5816G>A