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.Phe275Leu
CA404084684
ENST00000545707.5:c.823T>C
CA404084687
ENST00000545707.5:c.825C>G
CA404084688
ENST00000545707.5:c.825C>A