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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:
CA1087432844
Gene:
Linked Data
dbSNP Id:
rs1780207704
gnomAD v3:
6-31207191-C-CTCT
gnomAD v4:
6-31207191-C-CTCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31207191_31207192insTCT , CM000668.2:g.31207191_31207192insTCT
GRCh38
NC_000006.11:g.31174968_31174969insTCT , CM000668.1:g.31174968_31174969insTCT
GRCh37
NC_000006.10:g.31282947_31282948insTCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'