Canonical Allele Identifier: PA2826212522
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_001182728.1:p.Glu187delinsSerArgLysProAspCysLys
CA658653706
NM_001195799.2:c.559delinsTCAAGGAAACCCGACTGCA