Canonical Allele Identifier: PA2826217128
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252058
ClinVar RCV Id: RCV000237347 RCV001699252
ClinVar Variation Id: 252059
ClinVar RCV Id: RCV000237875 RCV002411094
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu484Phe
CA10585637
NM_001195803.2:c.1452G>C
CA10585638
NM_001195803.2:c.1452G>T