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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:
PA2827605117
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35622
ClinVar RCV Id:
RCV000029269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Val1522Met
CA213467
NM_001351296.2:c.4564G>A