ClinGen Allele Registry
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Canonical Allele Identifier:
PA092470
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036678
RCV000208469
RCV000231726
RCV000769812
RCV000786402
ClinVar Variation:
43725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4510Thr
CA007947
NM_001035.3:c.13528G>A