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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:
CA1818661906
Gene: PVT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813857495
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128063476_128063477insGT , CM000670.2:g.128063476_128063477insGT
GRCh38
NC_000008.10:g.129075722_129075723insGT , CM000670.1:g.129075722_129075723insGT
GRCh37
NC_000008.9:g.129144904_129144905insGT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_003367.3:n.1213-6684_1213-6683insGT
Search 100 bp 5'
Search 100 bp 3'