ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962889
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224395
ClinVar RCV Id:
RCV000209981
RCV001770160
RCV002517426
RCV002500676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro3267Leu
CA074165
NM_001042723.2:c.9800C>T