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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:
CA1759829042
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.5017691_5017692delinsAG , CM000670.2:g.5017691_5017692delinsAG
GRCh38
NC_000008.10:g.4875213_4875214delinsAG , CM000670.1:g.4875213_4875214delinsAG
GRCh37
NC_000008.9:g.4862621_4862622delinsAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'