Canonical Allele Identifier: PA2826213392
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251899
ClinVar RCV Id: RCV000237381
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val482_Asp484del
CA10585505
NM_001195799.2:c.1444_1452del