Canonical Allele Identifier: PA658655271
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_000518.1:p.Glu228delinsSerArgLysProAspCysLys
CA658653706
NM_000527.5:c.682delinsTCAAGGAAACCCGACTGCA