Canonical Allele Identifier: PA2826213525
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072987
ClinVar RCV Id: RCV004015001

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser531Arg
CA036160
NM_001195799.2:c.1593T>G
CA404089653
NM_001195799.2:c.1591A>C
CA404089665
NM_001195799.2:c.1593T>A