Allele Registry

Canonical Allele Identifier: PA2827322465

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000001490

RCV000081740

RCV000624532

RCV000721969

RCV001273229

RCV002512647

RCV003894782

ClinVar Variation:

1425

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Arg104Gln	CA223191 NM_001330540.2:c.311G>A