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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:
CA2734098181
Gene:
Linked Data
dbSNP Id:
rs2143805320
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.80101529_80101546del , CM000679.2:g.80101529_80101546del
GRCh38
NC_000017.10:g.78075328_78075345del , CM000679.1:g.78075328_78075345del
GRCh37
NC_000017.9:g.75689923_75689940del
NCBI36
NG_009822.1:g.4974_4991del , LRG_673:g.4974_4991del
NG_029761.1:g.69898_69915del
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