ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962795
Gene: RYR1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001036188.1:p.Met3081Thr
NM_001042723.2:c.9242T>C