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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:
CA2555839074
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120591907del , CM000666.2:g.120591907del
GRCh38
NC_000004.11:g.121513062del , CM000666.1:g.121513062del
GRCh37
NC_000004.10:g.121732512del
NCBI36
Search 100 bp 5'
Search 100 bp 3'