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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:
CA2302010140
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001817_49001821delinsGTTTC , CM000680.2:g.49001817_49001821delinsGTTTC
GRCh38
NC_000018.9:g.46528187_46528191delinsGTTTC , CM000680.1:g.46528187_46528191delinsGTTTC
GRCh37
NC_000018.8:g.44782185_44782189delinsGTTTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'