Canonical Allele Identifier: PA2826215018
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2701718
ClinVar RCV Id: RCV003582255

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val300_Ile301del
CA2697556257
NM_001195800.2:c.898_903del