Canonical Allele Identifier: PA2828794903
Gene: LARGE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365558.1:p.Glu642_Tyr650delinsAsp
CA2402343722
NM_001378629.1:c.1926_1949del