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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:
CA2499216386
Gene:
Linked Data
ClinVar Variation Id:
997764
ClinVar RCV Id:
RCV001293321
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10148440_10158273del , CM000665.2:g.10148440_10158273del
GRCh38
NC_000003.11:g.10190124_10199957del , CM000665.1:g.10190124_10199957del
GRCh37
NC_000003.10:g.10165124_10174957del
NCBI36
Search 100 bp 5'
Search 100 bp 3'