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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:
PA121051
Gene: G6PD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10414
ClinVar RCV Id:
RCV000011158
RCV000066276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000393.4:p.Tyr352His
CA121049
NM_000402.4:c.1054T>C