Canonical Allele Identifier: PA2825331859
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1370543
ClinVar RCV Id: RCV001877214
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Ser77_Leu82del
CA2573149961
NM_001024024.2:c.229_246del