Canonical Allele Identifier: PA2825332273
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2949710
ClinVar RCV Id: RCV003804876

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Ser46Arg
CA389794196
NM_001024071.2:c.138C>G
CA389794197
NM_001024071.2:c.138C>A
CA389794204
NM_001024071.2:c.136A>C