Canonical Allele Identifier: PA2828045532
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2991346
ClinVar RCV Id: RCV003850009

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001342115.1:p.Cys45Ser
CA352344861
NM_001355186.2:c.133T>A
CA352344878
NM_001355186.2:c.134G>C