ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499242552
Gene: RYR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052415
ClinVar RCV Id:
RCV001360593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230925.1:p.Ala27Thr
CA7457694
NM_001243996.4:c.79G>A