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
ENSP00000376584.1:p.Met195Ile
CA382896764
ENST00000392841.1:c.585G>A
CA382896766
ENST00000392841.1:c.585G>T
CA382896770
ENST00000392841.1:c.585G>C