ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143113
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48308
ClinVar RCV Id:
RCV000041628
RCV000058787
RCV000245837
RCV000622807
RCV001507623
RCV001841611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Gln1832Glu
CA019294
NM_198056.3:c.5494C>G