Canonical Allele Identifier: PA2573176448
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618566
ClinVar RCV Id: RCV002093995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Pro49Ala
CA7193676
NM_001024071.2:c.145C>G