ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214225
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000223835
RCV001189912
RCV001841542
ClinVar Variation:
36742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Met1347Arg
CA009434
NM_001035.3:c.4040T>G