Allele Registry

Canonical Allele Identifier: PA2826883839

Gene: TAFAZZIN HGNC NCBI

ClinVar RCV:

RCV000035086

RCV000766522

RCV001340612

RCV002460897

ClinVar Variation:

42253

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290394.1:p.Val5Leu	CA131101 NM_001303465.2:c.13G>T CA415177937 NM_001303465.2:c.13G>C