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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:
CA2611613627
Gene: CYP2E1
HGNC
NCBI
Linked Data
gnomAD v4:
10-133526945-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.133526947del , CM000672.2:g.133526947del
GRCh38
NC_000010.10:g.135340451del , CM000672.1:g.135340451del
GRCh37
NC_000010.9:g.135190441del
NCBI36
NG_008383.1:g.4585del
Transcript Alleles
HGVS
Amino-acid change
ENST00000463117.6:c.-40+74del
ENSP00000440689.1:n.-40+74del
ENST00000541261.1:c.-40+74del
ENSP00000437799.1:n.-40+74del
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