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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:
CA2533498849
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6082300_6082301insC , CM000672.2:g.6082300_6082301insC
GRCh38
NC_000010.10:g.6124263_6124264insC , CM000672.1:g.6124263_6124264insC
GRCh37
NC_000010.9:g.6164269_6164270insC
NCBI36
Search 100 bp 5'
Search 100 bp 3'