Canonical Allele Identifier: PA916001385
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_001182727.1:p.Glu833Asp
CA040880
NM_001195798.2:c.2499G>T
CA404099486
NM_001195798.2:c.2499G>C