Canonical Allele Identifier: PA2828182395
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1899351
ClinVar RCV Id: RCV002575430

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352578.1:p.Met243Ile
CA2341485
NM_001365649.1:c.729G>A
CA352347566
NM_001365649.1:c.729G>C
CA352347567
NM_001365649.1:c.729G>T