ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828624147
Gene: MMAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2273195
ClinVar RCV Id:
RCV002822031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362573.1:p.His130Arg
CA358353135
NM_001375644.1:c.389A>G