Canonical Allele Identifier: PA916001163
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly754Arg
CA404095424
NM_001195798.2:c.2260G>A
CA404095426
NM_001195798.2:c.2260G>C