ClinGen Allele Registry
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Canonical Allele Identifier:
PA645456117
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433176
ClinVar RCV Id:
RCV000498485
RCV001865575
RCV002051859
RCV004003509
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg1075Gln
CA064575
NM_000540.3:c.3224G>A