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.Thr251Ser	CA411545123 ENST00000675277.1:c.752C>G CA411545125 ENST00000675277.1:c.751A>T