Canonical Allele Identifier: PA2826214136
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630380
ClinVar RCV Id: RCV000775620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu792Asp
CA040880
NM_001195799.2:c.2376G>T
CA404099486
NM_001195799.2:c.2376G>C