Canonical Allele Identifier: PA915998533
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys173Tyr
CA10584965
NM_001195798.2:c.518G>A