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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:
CA1649475285
Gene:
Linked Data
dbSNP Id:
rs1772495287
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98048110_98048111del , CM000668.2:g.98048110_98048111del
GRCh38
NC_000006.11:g.98495986_98495987del , CM000668.1:g.98495986_98495987del
GRCh37
NC_000006.10:g.98602707_98602708del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245563.2:n.372-51076_372-51075del
XR_942809.1:n.372-51076_372-51075del
Search 100 bp 5'
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