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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:
CA2361072108
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.34141566_34141568delinsGAA , CM000682.2:g.34141566_34141568delinsGAA
GRCh38
NC_000020.10:g.32729372_32729374delinsGAA , CM000682.1:g.32729372_32729374delinsGAA
GRCh37
NC_000020.9:g.32193033_32193035delinsGAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'