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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:
CA181547505
Gene:
Linked Data
dbSNP Id:
rs942241592
gnomAD v3:
8-88535755-TAATC-T
gnomAD v4:
8-88535755-TAATC-T
MyVariant Identifiers:
chr8:g.89547985_89547988del (hg19)
chr8:g.88535756_88535759del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88535758_88535761del , CM000670.2:g.88535758_88535761del
GRCh38
NC_000008.10:g.89547987_89547990del , CM000670.1:g.89547987_89547990del
GRCh37
NC_000008.9:g.89617103_89617106del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745651.2:n.1673+10758_1673+10761del
XR_001745653.2:n.286-6922_286-6919del
XR_928383.3:n.1475+10758_1475+10761del
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