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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:
CA2553153493
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.55657070_55657071insATTT , CM000672.2:g.55657070_55657071insATTT
GRCh38
NC_000010.10:g.57416830_57416831insATTT , CM000672.1:g.57416830_57416831insATTT
GRCh37
NC_000010.9:g.57086836_57086837insATTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'