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.Ser716Arg
CA404092662
ENST00000252444.10:c.2146A>C
CA404092681
ENST00000252444.10:c.2148T>A
CA404092684
ENST00000252444.10:c.2148T>G