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
ENSP00000252444.6:p.Asn316Lys
CA404079117
ENST00000252444.10:c.948C>G
CA404079119
ENST00000252444.10:c.948C>A