ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139677611
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849271
ClinVar RCV Id:
RCV001053197
RCV003132180
RCV004000059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg256Cys
CA069948
NM_001042723.2:c.766C>T