ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580130163
Gene: IBA57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001010867.1:p.Leu125Phe
CA345111649
NM_001010867.4:c.373C>T