ClinGen Allele Registry
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Canonical Allele Identifier:
PA645390238
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
228392
ClinVar RCV:
RCV000223326
RCV000771970
RCV001249323
RCV001762465
RCV002444864
RCV002485398
RCV003997755
ClinVar Variation:
229226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val3148Met
CA10576409
NM_001035.3:c.9442G>A