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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.Gln378His
CA404083642
ENST00000559340.2:c.1134G>C
CA404083643
ENST00000559340.2:c.1134G>T