Canonical Allele Identifier: PA2825208667
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2125439
ClinVar RCV Id: RCV003043620

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys225Phe
CA2580096492
NM_000527.5:c.673_675delinsTTT