Canonical Allele Identifier: PA2826212434
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070679
ClinVar RCV Id: RCV004013189

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser171Cys
CA404078077
NM_001195799.2:c.512C>G