ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962330
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382697
ClinVar RCV Id:
RCV000440100
RCV001205044
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Tyr1711Ser
CA16607793
NM_001042723.2:c.5132A>C