Canonical Allele Identifier: PA2573064218
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_001019242.1:p.Val191Ile
CA7193535
NM_001024071.2:c.571G>A