Canonical Allele Identifier: PA915956690
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9286
ClinVar RCV Id: RCV000518763 RCV002508115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Arg249Ser
CA120281
NM_001024024.2:c.747G>C
CA389786592
NM_001024024.2:c.747G>T