Canonical Allele Identifier: PA916001453
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251170
ClinVar RCV Id: RCV000237310
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp77_Gly78delinsGlu
CA10584869
NM_001195799.2:c.231_233del