ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645381613
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Arg267Gln
CA827866
NM_015506.3:c.800G>A