Canonical Allele Identifier: PA2826212755
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251526
ClinVar RCV Id: RCV000237783 RCV001854895
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp266His
CA10585196
NM_001195799.2:c.796G>C
CA2695228128
NM_001195799.2:c.795_796delinsCC