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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:
PA2827606006
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35610
ClinVar RCV Id:
RCV000029256
RCV002243664
RCV002243663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Phe1180Cys
CA213448
NM_001351297.2:c.3539T>G