ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962288
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544377
ClinVar RCV Id:
RCV000655499
RCV000721555
RCV002534229
RCV002477466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gln1589Pro
CA066436
NM_001042723.2:c.4766A>C