Canonical Allele Identifier: PA2825208602
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927148
ClinVar RCV Id: RCV001190234

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser198Leu
CA044071
NM_000527.5:c.593C>T