Canonical Allele Identifier: PA645376962
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251390
ClinVar RCV Id: RCV000237995

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp227del
CA10585078
NM_000527.5:c.681_683del
CA2573050582
NM_000527.5:c.679_681delinsACGGTATGGACTGCA