ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825493445
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191381
ClinVar RCV Id:
RCV000171573
RCV000987227
RCV001842513
RCV003539805
RCV003298204
RCV002485090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala551Val
CA015094
NM_001099405.2:c.1652C>T