Canonical Allele Identifier: PA645380369
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252225
ClinVar RCV Id: RCV000238203 RCV002418072 RCV003581643 RCV004017565
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp707Asn
CA10585778
NM_000527.5:c.2119G>A