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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:
CA1534250914
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.25902120_25902121delinsCT , CM000667.2:g.25902120_25902121delinsCT
GRCh38
NC_000005.9:g.25902229_25902230delinsCT , CM000667.1:g.25902229_25902230delinsCT
GRCh37
NC_000005.8:g.25937986_25937987delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'