Canonical Allele Identifier: PA916000993
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252194
ClinVar RCV Id: RCV000237106

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro685Ser
CA10585748
NM_001195798.2:c.2053C>T