Canonical Allele Identifier: PA2826213189
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 998052
ClinVar RCV Id: RCV001293737 RCV001537878 RCV004035599
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp402Arg
CA033596
NM_001195799.2:c.1204T>C
CA404085222
NM_001195799.2:c.1204T>A