Allele Registry

Canonical Allele Identifier: PA312735

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000664859

RCV001101235

RCV001573125

RCV001804923

RCV002252032

RCV002513959

ClinVar Variation:

203830

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Phe158Leu	CA312734 NM_015506.3:c.472T>C CA340133136 NM_015506.3:c.474T>A CA340133138 NM_015506.3:c.474T>G