Canonical Allele Identifier: PA2826214154
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773530
ClinVar RCV Id: RCV003582129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser805del
CA631770049
NM_001195799.2:c.2413_2415del