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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:
CA2507652258
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.80101528_80101532dup , CM000679.2:g.80101528_80101532dup
GRCh38
NC_000017.10:g.78075327_78075331dup , CM000679.1:g.78075327_78075331dup
GRCh37
NC_000017.9:g.75689922_75689926dup
NCBI36
NG_009822.1:g.4973_4977dup , LRG_673:g.4973_4977dup
NG_029761.1:g.69897_69901dup
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