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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:
PA915998147
Gene: AIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
825942
ClinVar RCV Id:
RCV001024485
RCV001206438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003968.3:p.Glu192Lys
CA6140874
NM_003977.4:c.574G>A