Canonical Allele Identifier: PA2825181047
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3069245
ClinVar RCV Id: RCV004007789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg744Trp
CA2825002701
NM_000527.5:c.2230_2232delinsTGG