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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:
CA2502297541
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50405588_50405589insTTTTTTTTTTTTT , CM000669.2:g.50405588_50405589insTTTTTTTTTTTTT
GRCh38
NC_000007.13:g.50473286_50473287insTTTTTTTTTTTTT , CM000669.1:g.50473286_50473287insTTTTTTTTTTTTT
GRCh37
NC_000007.12:g.50440780_50440781insTTTTTTTTTTTTT
NCBI36
NG_034231.1:g.106506_106507insTTTTTTTTTTTTT
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