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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:
CA1087706684
Gene: IP6K3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1766982055
gnomAD v3:
6-33748861-GATCC-G
gnomAD v4:
6-33748861-GATCC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748862_33748865del , CM000668.2:g.33748862_33748865del
GRCh38
NC_000006.11:g.33716639_33716642del , CM000668.1:g.33716639_33716642del
GRCh37
NC_000006.10:g.33824617_33824620del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024446324.1:c.-309+3872_-309+3875del
XP_024302092.1:n.-309+3872_-309+3875del
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