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.Asn464Ser
CA036573
ENST00000545707.5:c.1391A>G
CA1139666274
ENST00000545707.5:c.1391_1392delinsGT