Allele Registry

Canonical Allele Identifier: PA2827322340

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000148298

ClinVar Variation:

161117

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Glu35Asp	CA272838 NM_001330540.2:c.105G>T CA340132075 NM_001330540.2:c.105G>C