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) Matching Registered Transcripts
XP_016876707.1:p.Ser152_Ter153insCysAlaSerPheSerValCysAlaLeuValAlaAspArgThrAlaSerSerIleValCysLeuSerGlyLeuValCysThrPheHisPheGlnLeuLeuGlnMet
CA389786568
XM_017021218.1:c.459A>T
CA389786571
XM_017021218.1:c.459A>C