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
NP_001365555.1:p.Gln486His
CA411544680
NM_001378626.1:c.1458G>T
CA411544681
NM_001378626.1:c.1458G>C