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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:
CA1936850600
Gene: GUCY2GP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.112318992_112318993delinsGT , CM000672.2:g.112318992_112318993delinsGT
GRCh38
NC_000010.10:g.114078750_114078751delinsGT , CM000672.1:g.114078750_114078751delinsGT
GRCh37
NC_000010.9:g.114068740_114068741delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000479705.5:n.2245-937_2245-936delinsAC
ENST00000490269.1:n.461-937_461-936delinsAC
NR_028134.1:n.1994-937_1994-936delinsAC
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