Canonical Allele Identifier: PA2825181240
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2090561
ClinVar RCV Id: RCV003013165

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala789Ser
CA404096845
NM_000527.5:c.2365G>T