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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:
CA2611850353
Gene: MUC2
HGNC
NCBI
Linked Data
gnomAD v4:
11-1099950-A-ACACCCACGG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1099959_1099967dup , CM000673.2:g.1099959_1099967dup
GRCh38
NC_000011.9:g.1093867_1093875dup , CM000673.1:g.1093867_1093875dup
GRCh37
NC_000011.8:g.1083867_1083875dup
NCBI36
NG_051929.1:g.31986_31994dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361558.7:n.9743_9751dup
ENST00000674892.1:c.190_198dup
ENSP00000501871.1:p.Thr66_Thr67insAlaProThr
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