ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825201018
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
655938
ClinVar RCV Id:
RCV000812222
RCV002487772
RCV004001739
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ile2577Val
CA070086
NM_000540.3:c.7729A>G