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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:
CA181599866
Gene:
Linked Data
dbSNP Id:
rs983827107
gnomAD v3:
8-88981083-TAA-T
gnomAD v4:
8-88981083-TAA-T
MyVariant Identifiers:
chr8:g.89993313_89993314del (hg19)
chr8:g.88981084_88981085del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981084_88981085del , CM000670.2:g.88981084_88981085del
GRCh38
NC_000008.10:g.89993313_89993314del , CM000670.1:g.89993313_89993314del
GRCh37
NC_000008.9:g.90062429_90062430del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99024_179-99023del
Search 100 bp 5'
Search 100 bp 3'