Canonical Allele Identifier: PA2826215913
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_001182729.1:p.Glu665Asp
CA040880
NM_001195800.2:c.1995G>T
CA404099486
NM_001195800.2:c.1995G>C