Allele Registry

Canonical Allele Identifier: PA916028243

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000186029

RCV000586798

RCV001273223

ClinVar Variation:

203829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Gly90Asp	CA312733 NM_001330540.2:c.269G>A