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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:
CA2085721061
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.38889417_38889420delinsGATT , CM000675.2:g.38889417_38889420delinsGATT
GRCh38
NC_000013.10:g.39463554_39463557delinsGATT , CM000675.1:g.39463554_39463557delinsGATT
GRCh37
NC_000013.9:g.38361554_38361557delinsGATT
NCBI36
Search 100 bp 5'
Search 100 bp 3'