ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921287
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
809451
ClinVar RCV Id:
RCV000998028
RCV001842580
RCV004528331
RCV002454248
RCV002497311
ClinVar Variation Id:
923284
ClinVar RCV Id:
RCV001843191
RCV003574857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Asp82Glu
CA060506
NM_001354701.2:c.246C>A
CA060513
NM_001354701.2:c.246C>G