ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573269677
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Met74Ile
CA827666
NM_015506.3:c.222G>C
CA827667
NM_015506.3:c.222G>T
CA340131915
NM_015506.3:c.222G>A