ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272182
Gene: MANBA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005899.3:p.Ser727Phe
CA3026676
NM_005908.4:c.2180C>T