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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:
CA2366180266
Gene:
Linked Data
dbSNP Id:
rs1988122822
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45352193_45352194del , CM000682.2:g.45352193_45352194del
GRCh38
NC_000020.10:g.43980833_43980834del , CM000682.1:g.43980833_43980834del
GRCh37
NC_000020.9:g.43414247_43414248del
NCBI36
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