Canonical Allele Identifier: PA235414
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Phe282Leu
CA023778
NM_000527.5:c.846C>A
CA404080610
NM_000527.5:c.844T>C
CA404080626
NM_000527.5:c.846C>G