ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389461
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
404214
ClinVar RCV Id:
RCV001170256
RCV002365589
RCV002522784
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr2116Ala
CA087095
NM_001035.3:c.6346A>G