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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
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Canonical Allele Identifier:
CA2522066641
Gene: COG6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39776593_39776594insTAACA , CM000675.2:g.39776593_39776594insTAACA
GRCh38
NC_000013.10:g.40350730_40350731insTAACA , CM000675.1:g.40350730_40350731insTAACA
GRCh37
NC_000013.9:g.39248730_39248731insTAACA
NCBI36
NG_028352.1:g.125967_125968insTAACA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000416691.5:c.1827-11742_1827-11741insTAACA
ENSP00000403733.1:n.1827-11742_1827-11741insTAACA
NM_001145079.1:c.1827-11742_1827-11741insTAACA
NP_001138551.1:n.1827-11742_1827-11741insTAACA
NM_001145079.2:c.1827-11742_1827-11741insTAACA
NP_001138551.1:n.1827-11742_1827-11741insTAACA
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