ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422334
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
643945
ClinVar RCV Id:
RCV000797763
RCV003489880
RCV002501057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala4366Thr
CA405673506
NM_001042723.2:c.13096G>A