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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:
CA1691656450
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957864_17957865delinsAT , CM000669.2:g.17957864_17957865delinsAT
GRCh38
NC_000007.13:g.17997487_17997488delinsAT , CM000669.1:g.17997487_17997488delinsAT
GRCh37
NC_000007.12:g.17964012_17964013delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-806_271-805delinsAT
Search 100 bp 5'
Search 100 bp 3'