ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580146794
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2175784
ClinVar RCV Id:
RCV002582056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala1743Thr
CA405654230
NM_001042723.2:c.5227G>A