Canonical Allele Identifier: PA645425493
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000152.1:p.Trp53Ter
NM_000161.3:c.158G>A

NM_000161.3:c.159del

NM_000161.3:c.159G>A