Canonical Allele Identifier: PA645425511
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Glu195Asp
CA16606564
NM_000161.3:c.585A>C
CA389787335
NM_000161.3:c.585A>T