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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:
CA2696091509
Gene:
Linked Data
dbSNP Id:
rs2149084809
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329038del , CM000663.2:g.45329038del
GRCh38
NC_000001.10:g.45794710del , CM000663.1:g.45794710del
GRCh37
NC_000001.9:g.45567297del
NCBI36
NG_008189.1:g.16433del , LRG_220:g.16433del
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