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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:
CA2790085669
Gene: CYP2E1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.133527056_133527057insA , CM000672.2:g.133527056_133527057insA
GRCh38
NC_000010.10:g.135340560_135340561insA , CM000672.1:g.135340560_135340561insA
GRCh37
NC_000010.9:g.135190550_135190551insA
NCBI36
NG_008383.1:g.4694_4695insA
Transcript Alleles
HGVS
Amino-acid change
ENST00000463117.6:c.-40+183_-40+184insA
ENSP00000440689.1:n.-40+183_-40+184insA
ENST00000541261.1:c.-40+183_-40+184insA
ENSP00000437799.1:n.-40+183_-40+184insA
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