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
ENSP00000392041.2:p.Met195Leu
CA382896750
ENST00000442944.6:c.583A>C
CA382896753
ENST00000442944.6:c.583A>T