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
ENSP00000453696.2:p.Phe126Leu
CA10584888
ENST00000559340.2:c.376T>C
CA404076320
ENST00000559340.2:c.378C>A
CA404076321
ENST00000559340.2:c.378C>G