Canonical Allele Identifier: PA645377353
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251483
ClinVar RCV Id: RCV000237583
ClinVar Variation Id: 251486
ClinVar RCV Id: RCV000237595
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys284Ser
CA10585157
NM_000527.5:c.850T>A
CA10585160
NM_000527.5:c.851G>C