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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:
CA856539058
Gene:
Linked Data
dbSNP Id:
rs1285275652
gnomAD v3:
8-88535734-AT-A
gnomAD v4:
8-88535734-AT-A
MyVariant Identifiers:
chr8:g.89547964del (hg19)
chr8:g.88535735del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88535741del , CM000670.2:g.88535741del
GRCh38
NC_000008.10:g.89547970del , CM000670.1:g.89547970del
GRCh37
NC_000008.9:g.89617086del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745651.2:n.1673+10782del
XR_001745653.2:n.286-6939del
XR_928383.3:n.1475+10782del
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