Allele Registry

Canonical Allele Identifier: PA124384

Gene: IMPDH1 HGNC NCBI

ClinVar RCV:

RCV000015963

RCV001972635

ClinVar Variation:

14838

1457411

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136046.1:p.Asn193Lys	CA124382 NM_001142574.2:c.579T>G CA369171839 NM_001142574.2:c.579T>A