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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:
CA210168342
Gene:
Linked Data
dbSNP Id:
rs55832971
gnomAD v2:
10-88128170-T-TACACAC
gnomAD v3:
10-86368413-T-TACACAC
gnomAD v4:
10-86368413-T-TACACAC
MyVariant Identifiers:
chr10:g.88128176_88128177insACACAC (hg19)
chr10:g.88128170_88128171insACACAC (hg19)
chr10:g.86368419_86368420insACACAC (hg38)
chr10:g.86368413_86368414insACACAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.86368446_86368451dup , CM000672.2:g.86368446_86368451dup
GRCh38
NC_000010.10:g.88128203_88128208dup , CM000672.1:g.88128203_88128208dup
GRCh37
NC_000010.9:g.88118183_88118188dup
NCBI36
NG_011875.1:g.3075_3080dup
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