Canonical Allele Identifier: PA2826214118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2568142
ClinVar RCV Id: RCV003283510
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asn784del
CA2580613053
NM_001195799.2:c.2350_2352del