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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:
CA1620148908
Gene: IP6K3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748856_33748857delinsGT , CM000668.2:g.33748856_33748857delinsGT
GRCh38
NC_000006.11:g.33716633_33716634delinsGT , CM000668.1:g.33716633_33716634delinsGT
GRCh37
NC_000006.10:g.33824611_33824612delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024446324.1:c.-309+3880_-309+3881delinsAC
XP_024302092.1:n.-309+3880_-309+3881delinsAC
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