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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:
CA2736981207
Gene:
Linked Data
dbSNP Id:
rs2145448488
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007200del , CM000682.2:g.46007200del
GRCh38
NC_000020.10:g.44635839del , CM000682.1:g.44635839del
GRCh37
NC_000020.9:g.44069246del
NCBI36
NG_011468.1:g.3293del
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