Canonical Allele Identifier: PA2826213643
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430788
ClinVar RCV Id: RCV000495870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser569_Val572dup
CA645373244
NM_001195799.2:c.1706_1717dup