Canonical Allele Identifier: PA2825178949
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2719652
ClinVar RCV Id: RCV003582615

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asn370Ile
CA404083429
NM_000527.5:c.1109A>T