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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:
CA1769514545
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734946_20734948delinsCAT , CM000670.2:g.20734946_20734948delinsCAT
GRCh38
NC_000008.10:g.20592457_20592459delinsCAT , CM000670.1:g.20592457_20592459delinsCAT
GRCh37
NC_000008.9:g.20636737_20636739delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949569.3:n.72-55500_72-55498delinsCAT
Search 100 bp 5'
Search 100 bp 3'