Canonical Allele Identifier: PA2826213639
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252051

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro567Leu
CA10585631
NM_001195799.2:c.1700C>T
CA645611147
NM_001195799.2:c.1700_1701delinsTT