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.Phe695Leu
CA10585632
ENST00000252444.10:c.2083T>C
CA404089853
ENST00000252444.10:c.2085C>A
CA404089854
ENST00000252444.10:c.2085C>G