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
ENSP00000453513.2:p.Phe783Leu
CA404099114
ENST00000560467.2:c.2347T>C
CA404099135
ENST00000560467.2:c.2349T>A
CA404099141
ENST00000560467.2:c.2349T>G