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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:
CA2545456173
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19768182_19768183insGTTT , CM000686.2:g.19768182_19768183insGTTT
GRCh38
NC_000024.9:g.21930068_21930069insGTTT , CM000686.1:g.21930068_21930069insGTTT
GRCh37
NC_000024.8:g.20389456_20389457insGTTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'