This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4960Leu
CA405692645
NM_000540.3:c.14878T>C
CA405692660
NM_000540.3:c.14880C>A
CA405692662
NM_000540.3:c.14880C>G