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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:
PA2828305464
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302141
ClinVar RCV Id:
RCV001754030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355935.1:p.Arg111Cys
CA5022362
NM_001369006.1:c.331C>T