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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:
CA923854040
Gene: BCORP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2045041570
gnomAD v3:
Y-19460070-CCAAA-C
gnomAD v4:
Y-19460070-CCAAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19460074_19460077del , CM000686.2:g.19460074_19460077del
GRCh38
NC_000024.9:g.21621960_21621963del , CM000686.1:g.21621960_21621963del
GRCh37
NC_000024.8:g.20081348_20081351del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650676.1:n.1813_1816del
ENST00000400605.5:n.1807_1810del
ENST00000441139.5:n.1794-708_1794-705del
ENST00000513194.1:n.4580-708_4580-705del
NR_002923.2:n.1794-708_1794-705del
NR_033732.1:n.1824_1827del
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