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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:
CA2551743877
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7532228del , CM000686.2:g.7532228del
GRCh38
NC_000024.9:g.7400269del , CM000686.1:g.7400269del
GRCh37
NC_000024.8:g.7460269del
NCBI36
Search 100 bp 5'
Search 100 bp 3'