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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:
CA2122202268
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20793550_20793551delinsGC , CM000676.2:g.20793550_20793551delinsGC
GRCh38
NC_000014.8:g.21261709_21261710delinsGC , CM000676.1:g.21261709_21261710delinsGC
GRCh37
NC_000014.7:g.20331549_20331550delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943584.1:n.585+764_585+765delinsGC
XR_943585.1:n.585+764_585+765delinsGC
XR_001750620.1:n.3271+764_3271+765delinsGC
XR_001750621.1:n.3271+764_3271+765delinsGC
XR_001750622.1:n.637+6353_637+6354delinsGC
XR_001750623.1:n.637+6353_637+6354delinsGC
XR_001750624.1:n.637+6353_637+6354delinsGC
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