Canonical Allele Identifier: PA2826214020
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252287
ClinVar RCV Id: RCV000237424
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp733_Asn739del
CA10585827
NM_001195799.2:c.2199_2219del