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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:
CA2734942535
Gene:
Linked Data
dbSNP Id:
rs2144933077
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.26850645del , CM000680.2:g.26850645del
GRCh38
NC_000018.9:g.24430609del , CM000680.1:g.24430609del
GRCh37
NC_000018.8:g.22684607del
NCBI36
NG_029560.1:g.20108del
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