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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:
PA2825896604
Gene: GATA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2927915
ClinVar RCV Id:
RCV003786737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139133.1:p.His112Asp
CA354407282
NM_001145661.2:c.334C>G