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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:
PA2825897593
Gene: GATA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
666189
ClinVar RCV Id:
RCV000824630
RCV003396460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139134.1:p.His113Arg
CA354407257
NM_001145662.1:c.338A>G