Canonical Allele Identifier: PA2826212452
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251349
ClinVar RCV Id: RCV000237120
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp176_Gly178del
CA10585038
NM_001195799.2:c.525_533del