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: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Val246Leu
CA382898298
NM_001024382.2:c.736G>C
CA382898301
NM_001024382.2:c.736G>T