Canonical Allele Identifier: PA3081484716
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Glu84Asp
CA389793788
NM_000161.3:c.252G>C
CA389793789
NM_000161.3:c.252G>T