ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580397518
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Cys82Tyr
CA340132011
NM_015506.3:c.245G>A