Canonical Allele Identifier: PA2825180918
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1786148
ClinVar RCV Id: RCV002417525

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala705_Asp707delinsGly
CA2580096711
NM_000527.5:c.2114_2120delinsG