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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
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Canonical Allele Identifier:
CA1581765876
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.129387089_129387091delinsCTT , CM000667.2:g.129387089_129387091delinsCTT
GRCh38
NC_000005.9:g.128722782_128722784delinsCTT , CM000667.1:g.128722782_128722784delinsCTT
GRCh37
NC_000005.8:g.128750681_128750683delinsCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_427770.2:n.163-1359_163-1357delinsCTT
XR_948774.1:n.235-5562_235-5560delinsCTT
XR_001742463.1:n.4089-1359_4089-1357delinsCTT
XR_001742464.1:n.2019-5562_2019-5560delinsCTT
XR_001742465.1:n.401-1359_401-1357delinsCTT
XR_427770.3:n.337-1359_337-1357delinsCTT
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