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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:
CA2593138156
Gene:
Linked Data
gnomAD v3:
15-51679813-G-GTTTTTTT
gnomAD v4:
15-51679813-G-GTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.51679813_51679814insTTTTTTT , CM000677.2:g.51679813_51679814insTTTTTTT
GRCh38
NC_000015.9:g.51972010_51972011insTTTTTTT , CM000677.1:g.51972010_51972011insTTTTTTT
GRCh37
NC_000015.8:g.49759302_49759303insTTTTTTT
NCBI36
NG_013214.1:g.3461_3462insTTTTTTT
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