ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961443
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544412
ClinVar RCV Id:
RCV000655545
RCV000721524
RCV001592837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala140Thr
CA065638
NM_001042723.2:c.418G>A