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
ENSP00000509288.1:p.Lys172Asn
CA382897305
ENST00000686218.1:c.516G>C
CA382897308
ENST00000686218.1:c.516G>T