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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:
CA1458424385
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54072277_54072280delinsGGGC , CM000666.2:g.54072277_54072280delinsGGGC
GRCh38
NC_000004.11:g.54938444_54938447delinsGGGC , CM000666.1:g.54938444_54938447delinsGGGC
GRCh37
NC_000004.10:g.54633201_54633204delinsGGGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000507166.5:c.1018-202648_1018-202645delinsGGGC
ENSP00000423325.1:n.1018-202648_1018-2026...
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