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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:
CA2248746080
Gene:
Linked Data
dbSNP Id:
rs1905191301
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.13655863del , CM000679.2:g.13655863del
GRCh38
NC_000017.10:g.13559180del , CM000679.1:g.13559180del
GRCh37
NC_000017.9:g.13499905del
NCBI36
Search 100 bp 5'
Search 100 bp 3'