Canonical Allele Identifier: PA2826213808
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252172
ClinVar RCV Id: RCV000237663

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser632Arg
CA038161
NM_001195799.2:c.1894A>C
CA404093523
NM_001195799.2:c.1896C>G
CA404093524
NM_001195799.2:c.1896C>A