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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:
CA2176975131
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.51679796_51679797delinsCT , CM000677.2:g.51679796_51679797delinsCT
GRCh38
NC_000015.9:g.51971993_51971994delinsCT , CM000677.1:g.51971993_51971994delinsCT
GRCh37
NC_000015.8:g.49759285_49759286delinsCT
NCBI36
NG_013214.1:g.3444_3445delinsCT
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