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
ENSP00000476866.2:p.Gln486His
CA411544680
ENST00000608642.6:c.1458G>T
CA411544681
ENST00000608642.6:c.1458G>C