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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:
CA2045505668
Gene:
Linked Data
dbSNP Id:
rs1870950845
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938340del , CM000674.2:g.71938340del
GRCh38
NC_000012.11:g.72332120del , CM000674.1:g.72332120del
GRCh37
NC_000012.10:g.70618387del
NCBI36
NG_008279.1:g.4495del
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