ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573305700
Gene: MMAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758454.1:p.Leu122Pro
CA3095159
NM_172250.3:c.365T>C