Canonical Allele Identifier: PA2826212093
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440539
ClinVar RCV Id: RCV000508740
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Val23_Ser49del;Glu51_Ser64del]
CA645509253
NM_001195799.2:c.68_190del