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.Gly418Arg
CA10585534
ENST00000545707.5:c.1252G>A
CA10585535
ENST00000545707.5:c.1252G>C