Canonical Allele Identifier: PA916028247
Gene: MMACHC HGNC NCBI
ClinVar RCV:
RCV000148300
ClinVar Variation:
161119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Gly98Glu
CA272842
NM_001330540.2:c.293G>A