Canonical Allele Identifier: PA2826214953
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2778717
ClinVar RCV Id: RCV003741392

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg272Ile
CA404085166
NM_001195800.2:c.815G>T