Canonical Allele Identifier: PA1139684935
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 921932
ClinVar RCV Id: RCV001181687

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala394Ser
CA404083971
NM_001195798.2:c.1180G>T