Canonical Allele Identifier: PA2829829194
Gene: MMACHC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Pro282_Ter283insLeuPheSerProMetTrpThrLeuIleTyrGlyGlyThrCys
CA245353
NM_015506.3:c.848G>T