Canonical Allele Identifier: PA2573269677
Gene: MMACHC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Met74Ile
CA827666
NM_015506.3:c.222G>C
CA827667
NM_015506.3:c.222G>T
CA340131915
NM_015506.3:c.222G>A