Canonical Allele Identifier: PA645377664
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251521
ClinVar RCV Id: RCV000237618
ClinVar Variation Id: 1437514
ClinVar RCV Id: RCV001934029 RCV002511117 RCV003318706
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp305Cys
CA10585191
NM_000527.5:c.915G>C
CA404081046
NM_000527.5:c.915G>T