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.Trp493Cys
CA10576323
ENST00000545707.5:c.1479G>T
CA10585660
ENST00000545707.5:c.1479G>C