ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736523
Gene: MMADHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056517.1:p.Gly125Arg
CA1902417
NM_015702.3:c.373G>C