Canonical Allele Identifier: PA915998536
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251279
ClinVar RCV Id: RCV000238387
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp175_Asp178del
CA10584970
NM_001195798.2:c.525_536del