ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232067
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133185
ClinVar RCV Id:
RCV000119685
RCV001580416
RCV002514605
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Phe2364Val
CA024702
NM_000540.3:c.7090T>G