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
ENSP00000415546.2:p.Val522Leu
CA411544448
ENST00000413114.6:c.1564G>T
CA411544450
ENST00000413114.6:c.1564G>C