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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:
PA095088
Gene: G6PD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10398
ClinVar RCV Id:
RCV000011136
RCV000011137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035810.1:p.Gly410Asp
CA121010
NM_001042351.2:c.1229G>A