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
NP_001019553.1:p.Met254Ile
CA382898446
NM_001024382.2:c.762G>A
CA382898448
NM_001024382.2:c.762G>T
CA382898451
NM_001024382.2:c.762G>C