Canonical Allele Identifier: PA2825179175
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924165
ClinVar RCV Id: RCV001185364 RCV002484013
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly396Val
CA404084654
NM_000527.5:c.1187G>T