Canonical Allele Identifier: PA913195426
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629261
ClinVar RCV Id: RCV000773961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro757Ala
CA404095547
NM_000527.5:c.2269C>G