Canonical Allele Identifier: PA2580164585
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2090561
ClinVar RCV Id: RCV003013165

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala789Ser
CA404096845
NM_001195798.2:c.2365G>T