Canonical Allele Identifier: PA2825332232
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391248
ClinVar RCV Id: RCV000437896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Glu195Asp
CA16606564
NM_001024070.2:c.585A>C
CA389787335
NM_001024070.2:c.585A>T