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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:
CA2558259250
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12881298_12881299insTA , CM000686.2:g.12881298_12881299insTA
GRCh38
NC_000024.9:g.14993213_14993214insTA , CM000686.1:g.14993213_14993214insTA
GRCh37
NC_000024.8:g.13502607_13502608insTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'