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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:
CA2513530323
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.143520272_143520273insAAAAA , CM000667.2:g.143520272_143520273insAAAAA
GRCh38
NC_000005.9:g.142899837_142899838insAAAAA , CM000667.1:g.142899837_142899838insAAAAA
GRCh37
NC_000005.8:g.142880030_142880031insAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'