Canonical Allele Identifier: PA2826213750
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183128
ClinVar RCV Id: RCV000162005 RCV000238255 RCV000590648 RCV002415706
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp610Asn
CA354422
NM_001195799.2:c.1828G>A