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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:
PA2827937302
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432082
ClinVar RCV Id:
RCV003135342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341731.1:p.Thr25Ala
CA367398384
NM_001354802.1:c.73A>G