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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:
CA919689362
Gene:
Linked Data
dbSNP Id:
rs1596800190
gnomAD v3:
16-31096533-TAG-T
gnomAD v4:
16-31096533-TAG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31096538_31096539del , CM000678.2:g.31096538_31096539del
GRCh38
NC_000016.9:g.31107859_31107860del , CM000678.1:g.31107859_31107860del
GRCh37
NC_000016.8:g.31015360_31015361del
NCBI36
NG_011564.1:g.3421_3422del
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