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: MMACHC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000383840.4:p.Arg161Gln
ENST00000401061.9:c.482G>A