ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204064
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201325
ClinVar RCV Id:
RCV000190127
RCV002279938
RCV002515335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4091Val
CA007418
NM_001035.3:c.12272C>T