Canonical Allele Identifier: PA2826215539
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252135
ClinVar RCV Id: RCV000237182
ClinVar Variation Id: 2152309
ClinVar RCV Id: RCV003079228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Phe487Leu
CA10585700
NM_001195800.2:c.1461C>G
CA404093221
NM_001195800.2:c.1459T>C
CA404093238
NM_001195800.2:c.1461C>A