ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139672950
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847137
ClinVar RCV Id:
RCV001050619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly4255Ser
CA405671102
NM_000540.3:c.12763G>A