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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:
CA2470824123
Gene:
Linked Data
dbSNP Id:
rs2044276451
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086420_17086421insAGA , CM000686.2:g.17086420_17086421insAGA
GRCh38
NC_000024.9:g.19198300_19198301insAGA , CM000686.1:g.19198300_19198301insAGA
GRCh37
NC_000024.8:g.17707694_17707695insAGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'