Canonical Allele Identifier: PA2826212193
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440548
ClinVar RCV Id: RCV000508827

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys63Phe
CA404075130
NM_001195799.2:c.188G>T