Canonical Allele Identifier: PA915956705
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161247
ClinVar RCV Id: RCV000148505 RCV000265088 RCV000362082 RCV000585377 RCV000687434 RCV003917463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Pro69Leu
CA211433
NM_001024071.2:c.206C>T