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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:
CA1232483622
Gene:
Linked Data
dbSNP Id:
rs1660243874
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333528del , CM000663.2:g.248333528del
GRCh38
NC_000001.10:g.248496830del , CM000663.1:g.248496830del
GRCh37
NC_000001.9:g.246563453del
NCBI36
Search 100 bp 5'
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