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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:
CA1140995177
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.147089046_147089051delinsAAAAAA , CM000663.2:g.147089046_147089051delinsAAAAAA
GRCh38
NC_000001.10:g.146560593_146560598delinsAAAAAA , CM000663.1:g.146560593_146560598delinsAAAAAA
GRCh37
NC_000001.9:g.145027217_145027222delinsAAAAAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000444082.1:n.1845+20811_1845+20816delinsTTTTTT
Search 100 bp 5'
Search 100 bp 3'