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.Phe430Leu
CA404082760
ENST00000252444.10:c.1288T>C
CA404082770
ENST00000252444.10:c.1290C>G
CA404082772
ENST00000252444.10:c.1290C>A