ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962326
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544389
ClinVar RCV Id:
RCV000655513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala1700Val
CA405653767
NM_001042723.2:c.5099C>T