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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:
CA2770514100
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31575154del , CM000668.2:g.31575154del
GRCh38
NC_000006.11:g.31542931del , CM000668.1:g.31542931del
GRCh37
NC_000006.10:g.31650910del
NCBI36
NG_007462.1:g.4582del
NG_012010.1:g.8056del
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