Allele Registry

Canonical Allele Identifier: PA2826883920

Gene: TAFAZZIN HGNC NCBI

ClinVar RCV:

RCV000183907

RCV002516936

ClinVar Variation:

202092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290394.1:p.Arg112Cys	CA308799 NM_001303465.2:c.334C>T