Canonical Allele Identifier: PA2825208628
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753007
ClinVar RCV Id: RCV002368981

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp214_Arg215insProSerTrp
CA2580096467
NM_000527.5:c.635_643dup