Allele Registry

Canonical Allele Identifier: PA658800247

Gene: IBA57 HGNC NCBI

ClinVar RCV:

RCV000626148

RCV002529780

ClinVar Variation:

522951

HGVS (amino-acid)	Matching Registered Transcripts
NP_001010867.1:p.Arg105Trp	CA345106709 NM_001010867.4:c.313C>T