Canonical Allele Identifier: PA2825332222
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460390
ClinVar RCV Id: RCV001951575 RCV003223747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Arg184Cys
CA389787405
NM_001024070.2:c.550C>T