ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028242
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317469.1:p.Gly90Ala
CA312732
NM_001330540.2:c.269G>C