Canonical Allele Identifier: PA2573200303
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1377767
ClinVar RCV Id: RCV001912327
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Tyr48del
CA522810651
NM_001330540.2:c.142_144del