Canonical Allele Identifier: PA916001451
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251165
ClinVar RCV Id: RCV000237238

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys75_Ile81del
CA10584865
NM_001195799.2:c.224_244del