Canonical Allele Identifier: PA272843
Gene: MMACHC HGNC NCBI
ClinVar RCV:
RCV000148300
ClinVar Variation:
161119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Gly155Glu
CA272842
NM_015506.3:c.464G>A