Canonical Allele Identifier: PA916001637
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 250982
ClinVar RCV Id: RCV000237870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu16Pro
CA10584733
NM_001195803.2:c.47T>C