ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580133671
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1729196
ClinVar RCV Id:
RCV002324743
RCV003099317
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val1077Gly
CA39822643
NM_001035.3:c.3230T>G