Canonical Allele Identifier: PA645380153
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226385
ClinVar RCV Id: RCV000211595 RCV001853404
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys677Phe
CA10576328
NM_000527.5:c.2030G>T