ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580146975
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2336Leu
CA405667456
NM_001042723.2:c.7007G>T