ClinGen Allele Registry
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Canonical Allele Identifier:
PA092494
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182659
RCV000208033
RCV001332696
RCV002345634
ClinVar Variation:
201194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg176Gln
CA009819
NM_001035.3:c.527G>A