Allele Registry

Canonical Allele Identifier: PA272839

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000148298

ClinVar Variation:

161117

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Glu92Asp	CA272838 NM_015506.3:c.276G>T CA340132075 NM_015506.3:c.276G>C