Allele Registry

Canonical Allele Identifier: PA312740

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000186033

RCV000641155

RCV003407684

ClinVar Variation:

203833

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Tyr130del	CA312739 NM_015506.3:c.388_390del