Allele Registry

Canonical Allele Identifier: PA658800248

Gene: IBA57 HGNC NCBI

ClinVar Allele:

515609

ClinVar RCV:

RCV000651559

RCV003225108

ClinVar Variation:

541311

HGVS (amino-acid)	Matching Registered Transcripts
NP_001010867.1:p.Leu112Trp	CA1431107 NM_001010867.4:c.335T>G