Allele Registry

Canonical Allele Identifier: PA2826070148

Gene: AMPD1 HGNC NCBI

ClinVar RCV:

RCV000443504

RCV000763230

ClinVar Variation:

197620

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166097.2:p.Gln152His	CA202973 NM_001172626.2:c.456G>T CA341752593 NM_001172626.2:c.456G>C