This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000419045.2:p.Arg249Ser
ENST00000491895.7:c.747G>C

ENST00000491895.7:c.747G>T

ENST00000491895.7:c.[747_748delinsCT;749G...