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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:
CA1687062741
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.9284345_9284346delinsGC , CM000669.2:g.9284345_9284346delinsGC
GRCh38
NC_000007.13:g.9323975_9323976delinsGC , CM000669.1:g.9323975_9323976delinsGC
GRCh37
NC_000007.12:g.9290500_9290501delinsGC
NCBI36
Search 100 bp 5'
Search 100 bp 3'