ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645381433
Gene: MMACHC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377366
ClinVar RCV Id:
RCV000434552
RCV001833515
RCV002524741
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Arg132Gln
CA827724
NM_015506.3:c.395G>A