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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:
CA2302010010
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001511_49001513delinsCGT , CM000680.2:g.49001511_49001513delinsCGT
GRCh38
NC_000018.9:g.46527881_46527883delinsCGT , CM000680.1:g.46527881_46527883delinsCGT
GRCh37
NC_000018.8:g.44781879_44781881delinsCGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'