ClinGen Allele Registry
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Canonical Allele Identifier:
PA645389421
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392485
ClinVar RCV Id:
RCV000429254
RCV001524787
RCV002525494
RCV002488981
RCV004000579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.His2089Tyr
CA16603640
NM_001035.3:c.6265C>T