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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:
CA2765041262
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295136_1295141del , CM000667.2:g.1295136_1295141del
GRCh38
NC_000005.9:g.1295251_1295256del , CM000667.1:g.1295251_1295256del
GRCh37
NC_000005.8:g.1348251_1348256del
NCBI36
NG_009265.1:g.4907_4912del , LRG_343:g.4907_4912del
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