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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:
CA218149789
Gene:
Linked Data
dbSNP Id:
rs10563783
gnomAD v2:
11-13895488-A-ATGTG
gnomAD v3:
11-13873941-A-ATGTG
gnomAD v4:
11-13873941-A-ATGTG
MyVariant Identifiers:
chr11:g.13895492_13895493insTGTG (hg19)
chr11:g.13895488_13895489insTGTG (hg19)
chr11:g.13873945_13873946insTGTG (hg38)
chr11:g.13873941_13873942insTGTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13873954_13873957dup , CM000673.2:g.13873954_13873957dup
GRCh38
NC_000011.9:g.13895501_13895504dup , CM000673.1:g.13895501_13895504dup
GRCh37
NC_000011.8:g.13852077_13852080dup
NCBI36
Search 100 bp 5'
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