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
NP_001182732.1:p.Met404Ile
CA404088510
NM_001195803.2:c.1212G>A
CA404088516
NM_001195803.2:c.1212G>C
CA404088521
NM_001195803.2:c.1212G>T