Canonical Allele Identifier: PA645379407
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430785
ClinVar RCV Id: RCV000495918

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp579_Ser580insLeu
CA645373242
NM_000527.5:c.1738_1739insTGT