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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:
CA2611613562
Gene: CYP2E1
HGNC
NCBI
Linked Data
gnomAD v4:
10-133526863-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.133526863_133526864insA , CM000672.2:g.133526863_133526864insA
GRCh38
NC_000010.10:g.135340367_135340368insA , CM000672.1:g.135340367_135340368insA
GRCh37
NC_000010.9:g.135190357_135190358insA
NCBI36
NG_008383.1:g.4501_4502insA
Transcript Alleles
HGVS
Amino-acid change
ENST00000463117.6:c.-50_-49insA
ENSP00000440689.1:n.-50_-49insA
ENST00000541261.1:c.-50_-49insA
ENSP00000437799.1:n.-50_-49insA
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