Canonical Allele Identifier: PA1139697643
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920365
ClinVar RCV Id: RCV001179045

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg183Cys
CA305296860
NM_001195798.2:c.547C>T