Canonical Allele Identifier: PA915998842
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441191
ClinVar RCV Id: RCV000509177
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228delinsSerArgLysProAspCysLys
CA658653706
NM_001195798.2:c.682delinsTCAAGGAAACCCGACTGCA