Canonical Allele Identifier: PA2825208582
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920365
ClinVar RCV Id: RCV001179045

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg183Cys
CA305296860
NM_000527.5:c.547C>T