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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:
CA2611841762
Gene: MUC2
HGNC
NCBI
Linked Data
gnomAD v4:
11-1107070-CCTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1107074_1107076del , CM000673.2:g.1107074_1107076del
GRCh38
NC_000011.9:g.1100982_1100984del , CM000673.1:g.1100982_1100984del
GRCh37
NC_000011.8:g.1090982_1090984del
NCBI36
NG_051929.1:g.39097_39099del
Transcript Alleles
HGVS
Amino-acid change
ENST00000361558.7:n.11450-12_11450-10del
ENST00000674892.1:c.1897-12_1897-10del
ENSP00000501871.1:n.1897-12_1897-10del
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