Allele Registry

Canonical Allele Identifier: PA124385

Gene: IMPDH1 HGNC NCBI

ClinVar RCV:

RCV000015963

RCV001972635

ClinVar Variation:

14838

1457411

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136045.1:p.Asn198Lys	CA124382 NM_001142573.2:c.594T>G CA369171839 NM_001142573.2:c.594T>A