Canonical Allele Identifier: PA915999763
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431523
ClinVar RCV Id: RCV000497202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr404Ser
CA404084697
NM_001195798.2:c.1210A>T
CA404084699
NM_001195798.2:c.1211C>G