Allele Registry

Canonical Allele Identifier: PA2828045581

Gene: ABHD5 HGNC NCBI

ClinVar RCV:

RCV000005679

ClinVar Variation:

5350

HGVS (amino-acid)	Matching Registered Transcripts
NP_001342115.1:p.Gln130Pro	CA117424 NM_001355186.2:c.389A>C