ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388147
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427184
ClinVar RCV Id:
RCV000489848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Gln168Glu
CA345375521
NM_001035.3:c.502C>G