Canonical Allele Identifier: PA2830246769
Gene: LARGE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598397.1:p.Glu694_Tyr702delinsAsp
CA2402343722
NM_133642.5:c.2082_2105del