Canonical Allele Identifier: PA100175
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252221
ClinVar RCV Id: RCV000237946 RCV001090455
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp700Glu
CA10585774
NM_000527.5:c.2100C>G
CA404093923
NM_000527.5:c.2100C>A