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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:
CA917658627
Gene:
Linked Data
dbSNP Id:
rs1561764438
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1318688del , CM000668.2:g.1318688del
GRCh38
NC_000006.11:g.1318923del , CM000668.1:g.1318923del
GRCh37
NC_000006.10:g.1263923del
NCBI36
Search 100 bp 5'
Search 100 bp 3'