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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:
CA2548472413
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111081098del , CM000667.2:g.111081098del
GRCh38
NC_000005.9:g.110416796del , CM000667.1:g.110416796del
GRCh37
NC_000005.8:g.110444695del
NCBI36
Search 100 bp 5'
Search 100 bp 3'