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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:
CA2611835395
Gene: MUC2
HGNC
NCBI
Linked Data
gnomAD v4:
11-1085383-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1085387del , CM000673.2:g.1085387del
GRCh38
NC_000011.9:g.1083383del , CM000673.1:g.1083383del
GRCh37
NC_000011.8:g.1073383del
NCBI36
NG_051929.1:g.14086del
Transcript Alleles
HGVS
Amino-acid change
ENST00000361558.7:n.2246+64del
ENST00000675028.1:c.2219+64del
ENSP00000502432.1:n.2219+64del
NM_002457.3:c.2219+64del
NP_002448.3:n.2219+64del
NM_002457.4:c.2219+64del
NP_002448.4:n.2219+64del
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