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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:
CA2794415214
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6342428_6342431del , CM000674.2:g.6342428_6342431del
GRCh38
NC_000012.11:g.6451594_6451597del , CM000674.1:g.6451594_6451597del
GRCh37
NC_000012.10:g.6321855_6321858del
NCBI36
NG_007506.1:g.4668_4671del , LRG_193:g.4668_4671del
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