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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:
CA2766252191
Gene: BCORP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19482977del , CM000686.2:g.19482977del
GRCh38
NC_000024.9:g.21644863del , CM000686.1:g.21644863del
GRCh37
NC_000024.8:g.20104251del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650676.1:n.112-2680del
ENST00000400605.5:n.106-2680del
ENST00000441139.5:n.123-2680del
ENST00000513194.1:n.1911del
NR_002923.2:n.123-2680del
NR_033732.1:n.123-2680del
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