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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
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Canonical Allele Identifier:
CA2144473214
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68807102_68807103delinsTA , CM000676.2:g.68807102_68807103delinsTA
GRCh38
NC_000014.8:g.69273819_69273820delinsTA , CM000676.1:g.69273819_69273820delinsTA
GRCh37
NC_000014.7:g.68343572_68343573delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011537441.1:c.673-449_673-448delinsTA
XP_011535743.1:n.673-449_673-448delinsTA
XM_011537442.1:c.673-449_673-448delinsTA
XP_011535744.1:n.673-449_673-448delinsTA
XM_011537443.1:c.673-449_673-448delinsTA
XP_011535745.1:n.673-449_673-448delinsTA
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