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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:
PA2827605008
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1526006
ClinVar RCV Id:
RCV002052026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Ser1422Thr
CA379786622
NM_001351296.2:c.4264T>A