Canonical Allele Identifier: PA645379658
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430788
ClinVar RCV Id: RCV000495870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser610_Val613dup
CA645373244
NM_000527.5:c.1829_1840dup