Canonical Allele Identifier: PA2826212998
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251689
ClinVar RCV Id: RCV000237675
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln343_Asp345del
CA10585329
NM_001195799.2:c.1028_1036del