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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139680788
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu2348del
CA024679
NM_001042723.2:c.7042_7044del