ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825494383
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519424
ClinVar RCV Id:
RCV000621795
RCV002506507
RCV003542307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg811His
CA060390
NM_001099405.2:c.2432G>A