ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254725
Gene: GCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000152.1:p.Ala196Ser
NM_000161.3:c.586G>T