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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:
PA2826325687
Gene: DENND5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375553
ClinVar RCV Id:
RCV000416977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230183.1:p.Arg1210Gln
CA16044345
NM_001243254.2:c.3629G>A