Canonical Allele Identifier: PA2826213553
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 921461
ClinVar RCV Id: RCV001180901

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser539Cys
CA404089700
NM_001195799.2:c.1616C>G