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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:
CA2315730381
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77926102_77926106delinsCTAAA , CM000680.2:g.77926102_77926106delinsCTAAA
GRCh38
NC_000018.9:g.75638058_75638062delinsCTAAA , CM000680.1:g.75638058_75638062delinsCTAAA
GRCh37
NC_000018.8:g.73767046_73767050delinsCTAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'