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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956710
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640711
ClinVar RCV Id:
RCV000793795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019242.1:p.Glu84Gly
CA389793793
NM_001024071.2:c.251A>G