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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:
CA2532228766
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.3820244_3820245insTGTT , CM000672.2:g.3820244_3820245insTGTT
GRCh38
NC_000010.10:g.3862436_3862437insTGTT , CM000672.1:g.3862436_3862437insTGTT
GRCh37
NC_000010.9:g.3852436_3852437insTGTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'