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
ENSP00000445429.1:p.Asn318Lys
CA382899965
ENST00000543090.5:c.954C>A
CA382899966
ENST00000543090.5:c.954C>G