ClinGen Allele Registry
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Canonical Allele Identifier:
PA105171
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119695
RCV001127649
RCV001127650
RCV001127651
RCV001236218
RCV001788007
RCV001788008
RCV001788009
RCV001788010
RCV001788011
RCV001788012
RCV001788013
RCV002492410
RCV004019662
ClinVar Variation:
133193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala2428Thr
CA024738
NM_000540.3:c.7282G>A