Canonical Allele Identifier: PA645380280
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252219
ClinVar RCV Id: RCV000237906 RCV000589820 RCV000826172 RCV001284644 RCV002418071
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro699Leu
CA038525
NM_000527.5:c.2096C>T