Allele Registry

Canonical Allele Identifier: PA2828045499

Gene: ABHD5 HGNC NCBI

ClinVar Allele:

20390

ClinVar RCV:

RCV000005680

RCV001422922

ClinVar Variation:

5351

HGVS (amino-acid)	Matching Registered Transcripts
NP_001342115.1:p.Glu7Lys	CA117425 NM_001355186.2:c.19G>A