Canonical Allele Identifier: PA916001833
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161289
ClinVar RCV Id: RCV000211670 RCV001181333 RCV001354269 RCV002051682 RCV003162606
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg78Cys
CA023658
NM_001195803.2:c.232C>T