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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:
CA1800979670
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981062_88981064delinsCTG , CM000670.2:g.88981062_88981064delinsCTG
GRCh38
NC_000008.10:g.89993291_89993293delinsCTG , CM000670.1:g.89993291_89993293delinsCTG
GRCh37
NC_000008.9:g.90062407_90062409delinsCTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99003_179-99001delinsCAG
Search 100 bp 5'
Search 100 bp 3'