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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:
CA893636560
Gene:
Linked Data
dbSNP Id:
rs1414258313
gnomAD v3:
2-81347536-A-ATACTCTGTGT
gnomAD v4:
2-81347536-A-ATACTCTGTGT
MyVariant Identifiers:
chr2:g.81574660_81574661insTACTCTGTGT (hg19)
chr2:g.81347536_81347537insTACTCTGTGT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.81347536_81347537insTACTCTGTGT , CM000664.2:g.81347536_81347537insTACTCTGTGT
GRCh38
NC_000002.11:g.81574660_81574661insTACTCTGTGT , CM000664.1:g.81574660_81574661insTACTCTGTGT
GRCh37
NC_000002.10:g.81428171_81428172insTACTCTGTGT
NCBI36
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