Canonical Allele Identifier: PA916001729
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3742
ClinVar RCV Id: RCV000003940

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys46Ser
CA023468
NM_001195803.2:c.137G>C
CA404074834
NM_001195803.2:c.136T>A