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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:
CA2499216387
Gene:
Linked Data
ClinVar Variation Id:
997765
ClinVar RCV Id:
RCV001293322
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10148566_10158401del , CM000665.2:g.10148566_10158401del
GRCh38
NC_000003.11:g.10190250_10200085del , CM000665.1:g.10190250_10200085del
GRCh37
NC_000003.10:g.10165250_10175085del
NCBI36
Search 100 bp 5'
Search 100 bp 3'