ClinGen Allele Registry
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Canonical Allele Identifier:
PA306881
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182758
RCV001535748
RCV002272163
RCV002372117
ClinVar Variation:
201277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala2387Val
CA010582
NM_001035.3:c.7160C>T