Canonical Allele Identifier: PA645379642
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252053

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser610del
CA10585635
NM_000527.5:c.1829_1831del