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
ENSP00000354254.4:p.Asn2348Lys
CA405667813
ENST00000360985.7:c.7044C>A
CA405667815
ENST00000360985.7:c.7044C>G