Canonical Allele Identifier: PA916000987
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 496022

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro683Leu
CA038297
NM_001195798.2:c.2048C>T