Canonical Allele Identifier: PA645380741
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252319
ClinVar RCV Id: RCV000238138
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu799del
CA10585849
NM_000527.5:c.2395_2397del