ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961512
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133170
ClinVar RCV Id:
RCV000119668
RCV004528824
RCV001588956
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Met226Lys
CA024646
NM_001042723.2:c.677T>A