ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573064339
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332566
ClinVar RCV Id:
RCV001805612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.His2383Tyr
CA345396621
NM_001035.3:c.7147C>T