ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105645
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133101
ClinVar RCV Id:
RCV000119576
RCV000148805
RCV000655554
RCV001249073
RCV001449797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg530His
CA024291
NM_000540.3:c.1589G>A