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
ENSP00000443058.1:p.Lys81Asn
CA382890659
ENST00000542729.5:c.243G>C
CA382890663
ENST00000542729.5:c.243G>T