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
ENSP00000453346.1:p.Glu174Asp
CA404076999
ENST00000558013.5:c.522A>C
CA404077001
ENST00000558013.5:c.522A>T