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
ENSP00000501941.1:p.His494Gln	CA411544622 ENST00000674789.1:c.1482C>G CA411544623 ENST00000674789.1:c.1482C>A