Canonical Allele Identifier: PA2826217133
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1781021
ClinVar RCV Id: RCV002412708

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala485Pro
CA404089866
NM_001195803.2:c.1453G>C