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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:
CA1720907639
Gene:
Linked Data
dbSNP Id:
rs1789736066
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.81774492_81774494del , CM000669.2:g.81774492_81774494del
GRCh38
NC_000007.13:g.81403808_81403810del , CM000669.1:g.81403808_81403810del
GRCh37
NC_000007.12:g.81241744_81241746del
NCBI36
NG_016274.1:g.643_645del
NG_016274.2:g.643_645del
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