Canonical Allele Identifier: PA2580386443
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1899351
ClinVar RCV Id: RCV002575430

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057090.2:p.Met284Ile
CA2341485
NM_016006.6:c.852G>A
CA352347566
NM_016006.6:c.852G>C
CA352347567
NM_016006.6:c.852G>T