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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:
PA2826325358
Gene: DENND5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2173805
ClinVar RCV Id:
RCV002584749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001230183.1:p.Asp171Gly