Canonical Allele Identifier: PA2826217118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252051

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro481Leu
CA10585631
NM_001195803.2:c.1442C>T
CA645611147
NM_001195803.2:c.1442_1443delinsTT