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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:
CA1620148902
Gene: IP6K3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1766981159
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748851dup , CM000668.2:g.33748851dup
GRCh38
NC_000006.11:g.33716628dup , CM000668.1:g.33716628dup
GRCh37
NC_000006.10:g.33824606dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024446324.1:c.-309+3886dup
XP_024302092.1:n.-309+3886dup
Search 100 bp 5'
Search 100 bp 3'