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: LARGE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347088.2:p.Cys492Ser
CA411544641
ENST00000354992.7:c.1475G>C
CA411544645
ENST00000354992.7:c.1474T>A