ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092689
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12959
ClinVar RCV Id:
RCV000151756
RCV000190229
RCV000780694
RCV003151727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Leu433Pro
CA007785
NM_001035.3:c.1298T>C