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
ENSP00000453513.2:p.Ser430Arg
CA404085816
ENST00000560467.2:c.1288A>C
CA404085832
ENST00000560467.2:c.1290C>A
CA404085835
ENST00000560467.2:c.1290C>G