Canonical Allele Identifier: PA645375448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251041
ClinVar RCV Id: RCV000237267 RCV002229685
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp57del
CA10584772
NM_000527.5:c.171_173del