Canonical Allele Identifier: PA2826215685
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923754
ClinVar RCV Id: RCV001184678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg541del
CA1139666245
NM_001195800.2:c.1623_1625del