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
ENSP00000445429.1:p.Val184Leu
CA229595455
ENST00000543090.5:c.550G>T
CA382894954
ENST00000543090.5:c.550G>C