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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:
CA2499216344
Gene:
Linked Data
ClinVar Variation Id:
997748
ClinVar RCV Id:
RCV001293305
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10139761_10142459del , CM000665.2:g.10139761_10142459del
GRCh38
NC_000003.11:g.10181445_10184143del , CM000665.1:g.10181445_10184143del
GRCh37
NC_000003.10:g.10156445_10159143del
NCBI36
NG_008212.3:g.3127_5825del , LRG_322:g.3127_5825del
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