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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:
CA1649475156
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98048000_98048003delinsCTTT , CM000668.2:g.98048000_98048003delinsCTTT
GRCh38
NC_000006.11:g.98495876_98495879delinsCTTT , CM000668.1:g.98495876_98495879delinsCTTT
GRCh37
NC_000006.10:g.98602597_98602600delinsCTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245563.2:n.372-51186_372-51183delinsCTTT
XR_942809.1:n.372-51186_372-51183delinsCTTT
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