Allele Registry

Canonical Allele Identifier: PA223198

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000081744

RCV000272939

RCV001275218

ClinVar Variation:

95707

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Lys220del	CA223197 NM_015506.3:c.658_660del