Canonical Allele Identifier: PA2826213151
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231947
ClinVar RCV Id: RCV004518662
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp392_Thr393del
CA2825002700
NM_001195799.2:c.1176_1181del