Allele Registry

Canonical Allele Identifier: PA2830434951

Gene: TH HGNC NCBI

ClinVar RCV:

RCV000013120

RCV000724645

ClinVar Variation:

12327

HGVS (amino-acid)	Matching Registered Transcripts
NP_954987.2:p.Arg229His	CA341192 NM_199293.3:c.686G>A