Canonical Allele Identifier: PA2826211969
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074006
ClinVar RCV Id: RCV004012548

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp748His
CA404095246
NM_001195798.2:c.2242G>C