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
ENSP00000438726.2:p.Val185Leu
CA229595455
ENST00000536813.6:c.553G>T
CA382894954
ENST00000536813.6:c.553G>C