ClinGen Allele Registry
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Canonical Allele Identifier:
PA302348
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171678
RCV000212981
RCV001170254
RCV001256774
RCV002354428
RCV002515249
ClinVar Variation:
191483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Met1975Val
CA010073
NM_001035.3:c.5923A>G