Canonical Allele Identifier: PA2825332275
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926692
ClinVar RCV Id: RCV003788930

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Ala47Val
CA389794190
NM_001024071.2:c.140C>T