ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674561
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926394
ClinVar RCV Id:
RCV001188988
RCV002480628
RCV004010322
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser2501Ala
CA087399
NM_001035.3:c.7501T>G