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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:
CA2504386423
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67288345_67288348del , CM000685.2:g.67288345_67288348del
GRCh38
NC_000023.10:g.66508187_66508190del , CM000685.1:g.66508187_66508190del
GRCh37
NC_000023.9:g.66424912_66424915del
NCBI36
Search 100 bp 5'
Search 100 bp 3'