ClinGen Allele Registry
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Canonical Allele Identifier:
PA133002
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036792
RCV000252890
RCV000766722
RCV001170261
RCV002513440
RCV004534780
ClinVar Variation:
43826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.His2540Arg
CA010752
NM_001035.3:c.7619A>G