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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:
CA2211750348
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.19922328_19922329delinsCA , CM000678.2:g.19922328_19922329delinsCA
GRCh38
NC_000016.9:g.19933650_19933651delinsCA , CM000678.1:g.19933650_19933651delinsCA
GRCh37
NC_000016.8:g.19841151_19841152delinsCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'