ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422828
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285857
ClinVar RCV Id:
RCV000287938
RCV000293888
RCV000351106
RCV000389289
RCV000539271
RCV000721359
RCV001450014
RCV002487228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4752His
CA061023
NM_001042723.2:c.14255G>A