ClinGen Allele Registry
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Canonical Allele Identifier:
PA254749
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9369
ClinVar RCV Id:
RCV000009963
RCV000058726
RCV000183090
RCV000246905
RCV002307360
RCV003591624
RCV004545721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg1644His
CA018760
NM_001099404.2:c.4931G>A