Canonical Allele Identifier: PA915956753
Gene: GCH1 HGNC NCBI

Linked Data

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001019242.1:p.Val204Ter
NM_001024071.2:c.610del

NM_001024071.2:c.[610del;613G>A]