Canonical Allele Identifier: PA915956690
Gene: GCH1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001019195.1:p.Arg249Ser
NM_001024024.2:c.747G>C

NM_001024024.2:c.747G>T

NM_001024024.2:c.[747_748delinsCT;749G>C]...