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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:
CA1139499402
Gene:
Linked Data
dbSNP Id:
rs2044276202
gnomAD v3:
Y-17086238-TA-T
gnomAD v4:
Y-17086238-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086240del , CM000686.2:g.17086240del
GRCh38
NC_000024.9:g.19198120del , CM000686.1:g.19198120del
GRCh37
NC_000024.8:g.17707514del
NCBI36
Search 100 bp 5'
Search 100 bp 3'