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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:
CA2042861533
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.66000783_66000786delinsTGTG , CM000674.2:g.66000783_66000786delinsTGTG
GRCh38
NC_000012.11:g.66394563_66394566delinsTGTG , CM000674.1:g.66394563_66394566delinsTGTG
GRCh37
NC_000012.10:g.64680830_64680833delinsTGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'