ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827322590
Gene: MMACHC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465313
ClinVar RCV Id:
RCV000555947
RCV001508862
RCV003258864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317469.1:p.Glu160Val
CA827823
NM_001330540.2:c.479A>T