Allele Registry

Canonical Allele Identifier: PA2825010048

Gene: AMPD1 HGNC NCBI

ClinVar RCV:

RCV000077969

RCV000514310

RCV003226192

ClinVar Variation:

92330

HGVS (amino-acid)	Matching Registered Transcripts
NP_000027.3:p.Met310Ile	CA145616 NM_000036.3:c.930G>T CA341749815 NM_000036.3:c.930G>C CA341749816 NM_000036.3:c.930G>A