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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:
CA597784981
Gene:
Linked Data
dbSNP Id:
rs10563783
gnomAD v2:
11-13895488-ATGTG-A
gnomAD v3:
11-13873941-ATGTG-A
gnomAD v4:
11-13873941-ATGTG-A
MyVariant Identifiers:
chr11:g.13895489_13895492del (hg19)
chr11:g.13873942_13873945del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13873954_13873957del , CM000673.2:g.13873954_13873957del
GRCh38
NC_000011.9:g.13895501_13895504del , CM000673.1:g.13895501_13895504del
GRCh37
NC_000011.8:g.13852077_13852080del
NCBI36
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