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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:
CA917720390
Gene: IP6K3
HGNC
NCBI
Linked Data
dbSNP Id:
rs375521551
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33748857delinsGG , CM000668.2:g.33748857delinsGG
GRCh38
NC_000006.11:g.33716634delinsGG , CM000668.1:g.33716634delinsGG
GRCh37
NC_000006.10:g.33824612delinsGG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024446324.1:c.-309+3880delinsCC
XP_024302092.1:n.-309+3880delinsCC
Search 100 bp 5'
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