Canonical Allele Identifier: PA2825331821
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925684
ClinVar RCV Id: RCV003783778
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Pro49Ser
CA7193675
NM_001024024.2:c.145C>T