Canonical Allele Identifier: PA2826214159
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 374956
ClinVar RCV Id: RCV000415715 RCV001178126
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser808Leu
CA040999
NM_001195799.2:c.2423C>T