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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:
CA1983832702
Gene:
Linked Data
dbSNP Id:
rs1951966515
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.76570625_76570629del , CM000673.2:g.76570625_76570629del
GRCh38
NC_000011.9:g.76281669_76281673del , CM000673.1:g.76281669_76281673del
GRCh37
NC_000011.8:g.75959317_75959321del
NCBI36
Search 100 bp 5'
Search 100 bp 3'