Canonical Allele Identifier: PA2826216438
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2719652
ClinVar RCV Id: RCV003582615

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn243Ile
CA404083429
NM_001195803.2:c.728A>T