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.Phe694Leu
CA404093831
ENST00000558013.5:c.2080T>C
CA404093840
ENST00000558013.5:c.2082T>A
CA404093842
ENST00000558013.5:c.2082T>G