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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:
CA1620148914
Gene: IP6K3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1166027192
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748861_33748862insT , CM000668.2:g.33748861_33748862insT
GRCh38
NC_000006.11:g.33716638_33716639insT , CM000668.1:g.33716638_33716639insT
GRCh37
NC_000006.10:g.33824616_33824617insT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024446324.1:c.-309+3875_-309+3876insA
XP_024302092.1:n.-309+3875_-309+3876insA
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