Canonical Allele Identifier: PA095805
Gene: GCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000152.1:p.Arg249Ser
NM_000161.3:c.747G>C

NM_000161.3:c.747G>T

NM_000161.3:c.[747_748delinsCT;749G>C]