Canonical Allele Identifier: PA2826215428
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1781021
ClinVar RCV Id: RCV002412708

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala444Pro
CA404089866
NM_001195800.2:c.1330G>C