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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:
CA1522657408
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1447752_1447755delinsAAAG , CM000667.2:g.1447752_1447755delinsAAAG
GRCh38
NC_000005.9:g.1447867_1447870delinsAAAG , CM000667.1:g.1447867_1447870delinsAAAG
GRCh37
NC_000005.8:g.1500867_1500870delinsAAAG
NCBI36
NG_015885.1:g.2674_2677delinsCTTT
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