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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:
CA2519310386
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.86504765_86504766insTTTT , CM000669.2:g.86504765_86504766insTTTT
GRCh38
NC_000007.13:g.86134081_86134082insTTTT , CM000669.1:g.86134081_86134082insTTTT
GRCh37
NC_000007.12:g.85972017_85972018insTTTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'