ClinGen Allele Registry
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Canonical Allele Identifier:
PA645456457
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282726
ClinVar RCV Id:
RCV000623983
RCV000721328
RCV000533233
RCV003338497
RCV003995761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg4564Trp
CA060399
NM_000540.3:c.13690C>T