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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:
PA2825369662
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852446
ClinVar RCV Id:
RCV001057055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028227.1:p.Leu322Gln
CA397394178
NM_001033055.3:c.965T>A