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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:
PA2825781840
Gene: HOGA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204279
ClinVar RCV Id:
RCV000186486
RCV001379332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128142.1:p.Arg140Cys
CA203968
NM_001134670.2:c.418C>T