Canonical Allele Identifier: PA1139685137
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977990
ClinVar RCV Id: RCV001255946

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile469Asn
CA404085808
NM_001195798.2:c.1406T>A