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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:
PA2830123306
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36231
ClinVar RCV Id:
RCV000029894
RCV002463601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277043.1:p.Glu195Gly
CA213806
NM_033508.3:c.584A>G