Canonical Allele Identifier: PA645377987
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251648
ClinVar RCV Id: RCV000238048
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu357_Asp362dup
CA10585291
NM_000527.5:c.1069_1086dup