ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346614
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180493
ClinVar RCV Id:
RCV000157453
RCV001179056
RCV002444650
RCV003886381
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu1091Lys
CA009166
NM_001035.3:c.3271G>A