Canonical Allele Identifier: PA915998518
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251270
ClinVar RCV Id: RCV000237517
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys173_Asp175dup
CA10584962
NM_001195798.2:c.516_524dup