ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105628
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65990
ClinVar RCV Id:
RCV000056237
RCV000119556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg4914Gly
CA024242
NM_000540.3:c.14740A>G