Allele Registry

Canonical Allele Identifier: PA098144

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000001487

RCV002512644

ClinVar Variation:

1422

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Leu116Pro	CA251786 NM_015506.3:c.347T>C