ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825332247
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000255434
ClinVar Variation:
265172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019241.1:p.Val204Ter
CA10588576
NM_001024070.2:c.610del