ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211784
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161373
ClinVar RCV Id:
RCV000148820
RCV000812144
RCV000721580
RCV003998173
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg1707His
CA024486
NM_000540.3:c.5120G>A