ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329810
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_932173.1:p.Phe530Val
CA015032
NM_198056.3:c.1588T>G