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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:
PA2580383868
Gene: DENND5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2017071
ClinVar RCV Id:
RCV002835018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056028.2:p.Lys205Arg
CA379598930
NM_015213.4:c.614A>G