ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231803
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133033
ClinVar RCV Id:
RCV000119455
RCV001450001
RCV001854577
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ser4050Tyr
CA023971
NM_000540.3:c.12149C>A