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
ENSP00000440520.1:p.Cys214Arg
CA10585119
ENST00000535915.5:c.639_640delinsAC
CA10585121
ENST00000535915.5:c.640T>C