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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:
PA094824
Gene: G6PD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10362
ClinVar RCV Id:
RCV002288482
RCV003460450
RCV000011080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035810.1:p.Arg285His
CA120941
NM_001042351.2:c.854G>A