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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:
CA2593734005
Gene:
Linked Data
dbSNP Id:
rs1390689831
gnomAD v3:
6-24646563-C-CCCCCAGCTTGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24646575_24646585dup , CM000668.2:g.24646575_24646585dup
GRCh38
NC_000006.11:g.24646803_24646813dup , CM000668.1:g.24646803_24646813dup
GRCh37
NC_000006.10:g.24754782_24754792dup
NCBI36
NG_016206.1:g.4582_4592dup
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