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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:
CA2000589994
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.112164763_112164767delinsAAAGT , CM000673.2:g.112164763_112164767delinsAAAGT
GRCh38
NC_000011.9:g.112035486_112035490delinsAAAGT , CM000673.1:g.112035486_112035490delinsAAAGT
GRCh37
NC_000011.8:g.111540696_111540700delinsAAAGT
NCBI36
NG_028143.1:g.4351_4355delinsACTTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000525987.5:n.320-5656_320-5652delinsAAAGT
ENST00000531744.5:c.315-5656_315-5652delinsAAAGT
ENSP00000456957.1:n.315-5656_315-5652delinsAAAGT
ENST00000532699.1:c.315-5656_315-5652delinsAAAGT
ENSP00000456434.1:n.315-5656_315-5652delinsAAAGT
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