Canonical Allele Identifier: PA2826213704
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924020
ClinVar RCV Id: RCV001185135
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser589Arg
CA404092662
NM_001195799.2:c.1765A>C
CA404092681
NM_001195799.2:c.1767T>A
CA404092684
NM_001195799.2:c.1767T>G