ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139670770
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923065
ClinVar RCV Id:
RCV001258369
RCV001183511
RCV003163432
RCV004008387
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1086Gln
CA345397997
NM_001035.3:c.3257G>A