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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:
CA1474506512
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87884072_87884076delinsCAGGA , CM000666.2:g.87884072_87884076delinsCAGGA
GRCh38
NC_000004.11:g.88805224_88805228delinsCAGGA , CM000666.1:g.88805224_88805228delinsCAGGA
GRCh37
NC_000004.10:g.89024248_89024252delinsCAGGA
NCBI36
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