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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:
CA1138938008
Gene:
Linked Data
gnomAD v3:
Y-8707915-A-ATTTTTTTTTTTTTTTTT
gnomAD v4:
Y-8707915-A-ATTTTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.8707927_8707943dup , CM000686.2:g.8707927_8707943dup
GRCh38
NC_000024.9:g.8575968_8575984dup , CM000686.1:g.8575968_8575984dup
GRCh37
NC_000024.8:g.8635968_8635984dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000623558.1:c.139+8895_139+8911dup
ENSP00000485446.1:n.139+8895_139+8911dup
ENST00000624593.1:c.-57+40784_-57+40800dup
ENSP00000485106.1:n.-57+40784_-57+40800dup
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