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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:
CA2502469380
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.99682648del , CM000676.2:g.99682648del
GRCh38
NC_000014.8:g.100148985del , CM000676.1:g.100148985del
GRCh37
NC_000014.7:g.99218738del
NCBI36
NG_007963.1:g.3231del
Search 100 bp 5'
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