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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:
CA2397843011
Gene:
Linked Data
dbSNP Id:
rs1924071641
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.23548597_23548599del , CM000684.2:g.23548597_23548599del
GRCh38
NC_000022.10:g.23890784_23890786del , CM000684.1:g.23890784_23890786del
GRCh37
NC_000022.9:g.22220784_22220786del
NCBI36
Search 100 bp 5'
Search 100 bp 3'