ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825332225
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333858
ClinVar RCV Id:
RCV001809073
RCV001869592
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019241.1:p.Val191Ile
CA7193535
NM_001024070.2:c.571G>A