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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:
CA934230283
Gene: BET1L
HGNC
NCBI
Linked Data
dbSNP Id:
rs1855062732
gnomAD v3:
11-202777-AC-A
gnomAD v4:
11-202777-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.202779del , CM000673.2:g.202779del
GRCh38
NC_000011.9:g.202779del , CM000673.1:g.202779del
GRCh37
NC_000011.8:g.192779del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410108.5:c.168+2833del
ENSP00000386558.1:n.168+2833del
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