Allele Registry

Canonical Allele Identifier: PA098117

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000186029

RCV000586798

RCV001273223

ClinVar Variation:

203829

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Gly147Asp	CA312733 NM_015506.3:c.440G>A