Canonical Allele Identifier: PA2825331888
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813311
ClinVar RCV Id: RCV001004083 RCV003769402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Thr94Met
CA389793683
NM_001024024.2:c.281C>T