ClinGen Allele Registry
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Canonical Allele Identifier:
PA645389420
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252509
ClinVar RCV Id:
RCV000238973
RCV001186228
RCV002223830
RCV002365250
RCV002519858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Pro2078Ser
CA087077
NM_001035.3:c.6232C>T