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
ENSP00000440520.1:p.Ser691Arg
CA404094953
ENST00000535915.5:c.2071A>C
CA404094969
ENST00000535915.5:c.2073C>A
CA404094971
ENST00000535915.5:c.2073C>G