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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:
CA2470903594
Gene: BCORP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19460070_19460074delinsCCAAA , CM000686.2:g.19460070_19460074delinsCCAAA
GRCh38
NC_000024.9:g.21621956_21621960delinsCCAAA , CM000686.1:g.21621956_21621960delinsCCAAA
GRCh37
NC_000024.8:g.20081344_20081348delinsCCAAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650676.1:n.1813_1817delinsTTTGG
ENST00000400605.5:n.1807_1811delinsTTTGG
ENST00000441139.5:n.1794-708_1794-704delinsTTTGG
ENST00000513194.1:n.4580-708_4580-704delinsTTTGG
NR_002923.2:n.1794-708_1794-704delinsTTTGG
NR_033732.1:n.1824_1828delinsTTTGG
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