ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139681132
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
890314
ClinVar RCV Id:
RCV001124820
RCV001124821
RCV001124822
RCV001862904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gln2620Pro
CA405673674
NM_001042723.2:c.7859A>C