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
ENSP00000476364.1:p.Glu198Asp
CA411544451
ENST00000610186.5:c.594G>T
CA411544452
ENST00000610186.5:c.594G>C