ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825332275
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2926692
ClinVar RCV Id:
RCV003788930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019242.1:p.Ala47Val
CA389794190
NM_001024071.2:c.140C>T