Canonical Allele Identifier: PA2826212754
Gene: LDLR HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp266Glu
CA10585197
NM_001195799.2:c.798T>G
CA404081054
NM_001195799.2:c.798T>A