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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:
CA2723221709
Gene: BET1L
HGNC
NCBI
Linked Data
dbSNP Id:
rs2133734672
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.202762_202763insACA , CM000673.2:g.202762_202763insACA
GRCh38
NC_000011.9:g.202762_202763insACA , CM000673.1:g.202762_202763insACA
GRCh37
NC_000011.8:g.192762_192763insACA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410108.5:c.168+2848_168+2849insTGT
ENSP00000386558.1:n.168+2848_168+2849insT...
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