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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:
CA2263595561
Gene:
Linked Data
dbSNP Id:
rs2071091757
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49486598_49486600del , CM000679.2:g.49486598_49486600del
GRCh38
NC_000017.10:g.47563960_47563962del , CM000679.1:g.47563960_47563962del
GRCh37
NC_000017.9:g.44918959_44918961del
NCBI36
Search 100 bp 5'
Search 100 bp 3'