Canonical Allele Identifier: PA916001722
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441178
ClinVar RCV Id: RCV000509435

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp44Leu
CA404074813
NM_001195803.2:c.131G>T