Canonical Allele Identifier: PA2825208570
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689345
ClinVar RCV Id: RCV000850041
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys173Ser
CA404076950
NM_000527.5:c.517T>A
CA404076968
NM_000527.5:c.518G>C