ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: RYR1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000347667.3:p.Asn1346Lys
CA065501
ENST00000355481.8:c.4038C>A
CA065506
ENST00000355481.8:c.4038C>G