Canonical Allele Identifier: PA2827322704
Gene: MMACHC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Pro225_Ter226insLeuPheSerProMetTrpThrLeuIleTyrGlyGlyThrCys
CA245353
NM_001330540.2:c.677G>T