Canonical Allele Identifier: PA2826214760
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070315
ClinVar RCV Id: RCV004011833

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gln210His
CA404083642
NM_001195800.2:c.630G>C
CA404083643
NM_001195800.2:c.630G>T