ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825201211
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1311555
ClinVar RCV Id:
RCV001752538
RCV004009015
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Met2618Thr
CA070844
NM_000540.3:c.7853T>C