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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:
CA2724423284
Gene:
Linked Data
dbSNP Id:
rs2134251515
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.81524080_81524092del , CM000673.2:g.81524080_81524092del
GRCh38
NC_000011.9:g.81235122_81235134del , CM000673.1:g.81235122_81235134del
GRCh37
NC_000011.8:g.80912770_80912782del
NCBI36
Search 100 bp 5'
Search 100 bp 3'