Canonical Allele Identifier: PA2825332017
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459901
ClinVar RCV Id: RCV000550200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Ser250_Ter251insCysAlaSerPheSerValCysLeuGlnAsnHisSerPheHisAlaProGluArgAlaGlnAsnGluLeuThrValGluAspIleMetSerCysValGlnArgPheAsnGlnSerValSerTyrGlnArgSerValLysMetHisTrpLysLeuLeuValProValSerPheValValTyrValGlyLeuValLeuIleValThrProTyrArgTrpTyrArgTyrPheAsnProGlySerCysCysLeuIleAsnAspTyrLeuLysIleSerSerIleGlyAlaAlaTrpAlaLysLeuLysGlnThrLysProGlnLeuLeuHisArgAsnThrAsnThrValIlePro
CA389786568
NM_001024024.2:c.753A>T
CA389786571
NM_001024024.2:c.753A>C