ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742020726
Gene: MMAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2557123
ClinVar RCV Id:
RCV003309116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758454.1:p.Gln83Lys
CA358352494
NM_172250.3:c.247C>A