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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:
CA1715032725
Gene:
Linked Data
dbSNP Id:
rs1786793153
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68354987del , CM000669.2:g.68354987del
GRCh38
NC_000007.13:g.67819974del , CM000669.1:g.67819974del
GRCh37
NC_000007.12:g.67457910del
NCBI36
Search 100 bp 5'
Search 100 bp 3'