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
ENSP00000476364.1:p.Trp172Cys	CA411544614 ENST00000610186.5:c.516G>T CA411544615 ENST00000610186.5:c.516G>C