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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:
CA2315357932
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77153722_77153723delinsCT , CM000680.2:g.77153722_77153723delinsCT
GRCh38
NC_000018.9:g.74865678_74865679delinsCT , CM000680.1:g.74865678_74865679delinsCT
GRCh37
NC_000018.8:g.72994666_72994667delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'