ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923434
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67912
ClinVar RCV Id:
RCV000058693
RCV000183081
RCV000148850
RCV000987201
RCV001842367
RCV001725963
RCV002336211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val1513Ile
CA018450
NM_001354701.2:c.4537G>A