ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573174520
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1419847
ClinVar RCV Id:
RCV002560419
RCV004010889
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg2090Gln
CA345410900
NM_001035.3:c.6269G>A