Canonical Allele Identifier: PA2826216732
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 633286
ClinVar RCV Id: RCV000781495 RCV000996752 RCV001830674
ClinVar Variation Id: 927821
ClinVar RCV Id: RCV001191328 RCV001797825
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp345Asn
CA404085864
NM_001195803.2:c.1033G>A
CA913188994
NM_001195803.2:c.1032_1033delinsGA