Allele Registry

Canonical Allele Identifier: PA3057552135

Gene: TGM1 HGNC NCBI

ClinVar RCV:

RCV004586141

ClinVar Variation:

3251697

HGVS (amino-acid)	Matching Registered Transcripts
NP_000350.1:p.Val518Leu	CA389254315 NM_000359.3:c.1552G>T CA389254316 NM_000359.3:c.1552G>C