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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
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Canonical Allele Identifier:
CA1583152838
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132406375_132406388delinsCTGGGGTGTGCAGT , CM000667.2:g.132406375_132406388delinsCTGGGGTGTGCAGT
GRCh38
NC_000005.9:g.131742067_131742080delinsCTGGGGTGTGCAGT , CM000667.1:g.131742067_131742080delinsCTGGGGTGTGCAGT
GRCh37
NC_000005.8:g.131769966_131769979delinsCTGGGGTGTGCAGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'