ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306945
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201343
ClinVar RCV Id:
RCV000182830
RCV002054173
RCV002381597
RCV002517802
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu4361Lys
CA007802
NM_001035.3:c.13081G>A