Canonical Allele Identifier: PA2826211860
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072987
ClinVar RCV Id: RCV004015001

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser572Arg
CA036160
NM_001195798.2:c.1716T>G
CA404089653
NM_001195798.2:c.1714A>C
CA404089665
NM_001195798.2:c.1716T>A