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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:
CA566436768
Gene: IP6K3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1561914143
gnomAD v2:
6-33716629-T-TTG
gnomAD v3:
6-33748852-T-TTG
gnomAD v4:
6-33748852-T-TTG
MyVariant Identifiers:
chr6:g.33716629_33716630insTG (hg19)
chr6:g.33748852_33748853insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748852_33748853insTG , CM000668.2:g.33748852_33748853insTG
GRCh38
NC_000006.11:g.33716629_33716630insTG , CM000668.1:g.33716629_33716630insTG
GRCh37
NC_000006.10:g.33824607_33824608insTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_024446324.1:c.-309+3884_-309+3885insCA
XP_024302092.1:n.-309+3884_-309+3885insCA
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