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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:
CA1686904258
Gene:
Linked Data
dbSNP Id:
rs1785235421
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.9027013_9027014del , CM000669.2:g.9027013_9027014del
GRCh38
NC_000007.13:g.9066643_9066644del , CM000669.1:g.9066643_9066644del
GRCh37
NC_000007.12:g.9033168_9033169del
NCBI36
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