Allele Registry

Canonical Allele Identifier: PA2828182429

Gene: ABHD5 HGNC NCBI

ClinVar Allele:

20390

ClinVar RCV:

RCV000005680

RCV001422922

ClinVar Variation:

5351

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352579.1:p.Glu7Lys	CA117425 NM_001365650.1:c.19G>A