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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:
CA2552250698
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.156044526_156044528del , CM000669.2:g.156044526_156044528del
GRCh38
NC_000007.13:g.155837220_155837222del , CM000669.1:g.155837220_155837222del
GRCh37
NC_000007.12:g.155529981_155529983del
NCBI36
Search 100 bp 5'
Search 100 bp 3'