Canonical Allele Identifier: PA916000712
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252058
ClinVar Variation Id: 252059

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu611Phe
CA10585637
NM_001195798.2:c.1833G>C
CA10585638
NM_001195798.2:c.1833G>T