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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:
PA2828058067
Gene: G6PD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10411
ClinVar RCV Id:
RCV000143789
RCV001509137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346945.1:p.Lys320_Thr327del
CA121042
NM_001360016.2:c.957_980del