Allele Registry

Canonical Allele Identifier: PA2829201990

Gene: TOMT HGNC NCBI

ClinVar RCV:

RCV000000573

RCV000603810

ClinVar Variation:

543

HGVS (amino-acid)	Matching Registered Transcripts
NP_001380429.1:p.Arg48Gln	CA251495 NM_001393500.2:c.143G>A