Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000502702.1:p.Arg249Ser	CA411545133 ENST00000675277.1:c.747G>T CA411545134 ENST00000675277.1:c.747G>C