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
ENSP00000252444.6:p.Asp428Glu
CA10585256
ENST00000252444.10:c.1284C>G
CA404082755
ENST00000252444.10:c.1284C>A