Canonical Allele Identifier: PA915998635
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251321
ClinVar RCV Id: RCV000238584

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys204Ser
CA10585011
NM_001195798.2:c.611G>C
CA404077803
NM_001195798.2:c.610T>A