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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:
CA1759829050
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.5017700_5017701delinsAT , CM000670.2:g.5017700_5017701delinsAT
GRCh38
NC_000008.10:g.4875222_4875223delinsAT , CM000670.1:g.4875222_4875223delinsAT
GRCh37
NC_000008.9:g.4862630_4862631delinsAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'