Canonical Allele Identifier: PA2573176462
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1370543
ClinVar RCV Id: RCV001877214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Ser77_Leu82del
CA2573149961
NM_001024071.2:c.229_246del