This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.Asp193Glu
CA404082633
ENST00000545707.5:c.579C>A
CA404082634
ENST00000545707.5:c.579C>G