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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:
CA1963241095
Gene:
Linked Data
dbSNP Id:
rs1856335581
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.34438527_34438531del , CM000673.2:g.34438527_34438531del
GRCh38
NC_000011.9:g.34460074_34460078del , CM000673.1:g.34460074_34460078del
GRCh37
NC_000011.8:g.34416650_34416654del
NCBI36
NG_013339.1:g.4603_4607del
NG_013339.2:g.4603_4607del
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