Canonical Allele Identifier: PA916001847
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251093

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys82Phe
CA10584808
NM_001195803.2:c.245G>T