ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133005
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036796
RCV001095886
RCV001095887
RCV001175860
RCV002496576
RCV003996303
RCV004017312
ClinVar Variation:
43830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile2770Thr
CA010940
NM_001035.3:c.8309T>C