ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312729
Gene: MMACHC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056321.2:p.Arg73Ter
NM_015506.3:c.217C>T