ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825493406
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67669
ClinVar RCV Id:
RCV000058432
RCV000852550
RCV001842285
RCV003656624
RCV004019035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Phe530Val
CA015032
NM_001099405.2:c.1588T>G