ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923639
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67949
ClinVar RCV Id:
RCV000058734
RCV000190217
RCV000523560
RCV001842375
RCV002336216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val1648Ile
CA018825
NM_001354701.2:c.4942G>A