Canonical Allele Identifier: PA916001587
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226323
ClinVar RCV Id: RCV000211617
ClinVar Variation Id: 430753
ClinVar RCV Id: RCV000495923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp98Glu
CA10576282
NM_001195799.2:c.294C>G
CA404076384
NM_001195799.2:c.294C>A