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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:
CA940092355
Gene:
Linked Data
dbSNP Id:
rs1857984042
gnomAD v3:
11-81524005-AG-A
gnomAD v4:
11-81524005-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.81524006del , CM000673.2:g.81524006del
GRCh38
NC_000011.9:g.81235048del , CM000673.1:g.81235048del
GRCh37
NC_000011.8:g.80912696del
NCBI36
Search 100 bp 5'
Search 100 bp 3'