ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827322704
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317469.1:p.Pro225_Ter226insLeuPheSerProMetTrpThrLeuIleTyrGlyGlyThrCys
CA245353
NM_001330540.2:c.677G>T