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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:
CA2520488226
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12881495_12881497del , CM000686.2:g.12881495_12881497del
GRCh38
NC_000024.9:g.14993410_14993412del , CM000686.1:g.14993410_14993412del
GRCh37
NC_000024.8:g.13502804_13502806del
NCBI36
Search 100 bp 5'
Search 100 bp 3'