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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:
PA2580472263
Gene: ASXL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1700933
ClinVar RCV Id:
RCV002275845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085135.1:p.Pro1456Leu
CA402190765
NM_030632.1:c.4367C>T