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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:
CA1057419104
Gene:
Linked Data
dbSNP Id:
rs1722873175
gnomAD v3:
3-186831776-A-AT
gnomAD v4:
3-186831776-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186831776_186831777insT , CM000665.2:g.186831776_186831777insT
GRCh38
NC_000003.11:g.186549565_186549566insT , CM000665.1:g.186549565_186549566insT
GRCh37
NC_000003.10:g.188032259_188032260insT
NCBI36
Search 100 bp 5'
Search 100 bp 3'