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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:
PA658805517
Gene: DICER1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
543599
ClinVar RCV Id:
RCV000654409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_803187.1:p.Glu503Gln
CA390885370
NM_177438.3:c.1507G>C