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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:
CA931234964
Gene:
Linked Data
dbSNP Id:
rs1845477613
gnomAD v3:
10-92705644-CTCAGTTCTAAGGT-C
gnomAD v4:
10-92705644-CTCAGTTCTAAGGT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.92705646_92705658del , CM000672.2:g.92705646_92705658del
GRCh38
NC_000010.10:g.94465403_94465415del , CM000672.1:g.94465403_94465415del
GRCh37
NC_000010.9:g.94455383_94455395del
NCBI36
Search 100 bp 5'
Search 100 bp 3'