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
ENSP00000392041.3:p.Val229Leu
CA229596325
ENST00000442944.7:c.685G>T
CA382897541
ENST00000442944.7:c.685G>C