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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:
PA2827605131
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2884032
ClinVar RCV Id:
RCV003724222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Ala1536Thr
CA5902422
NM_001351296.2:c.4606G>A