ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139678731
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925599
ClinVar RCV Id:
RCV001187631
RCV002393431
RCV002559987
RCV003490103
RCV004008721
RCV003992459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg4790Gln
CA085650
NM_001035.3:c.14369G>A