ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825945357
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_001153633.1:p.Arg1590His
CA018760
NM_001160161.2:c.4769G>A