Canonical Allele Identifier: PA2826214647
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073453
ClinVar RCV Id: RCV004016459

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asp174His
CA404082750
NM_001195800.2:c.520G>C