Canonical Allele Identifier: PA915956742
Gene: GCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Glu195Asp
CA16606564
NM_001024071.2:c.585A>C
CA389787335
NM_001024071.2:c.585A>T