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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:
CA1119063721
Gene: PVT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813859524
gnomAD v3:
8-128063569-CAT-C
gnomAD v4:
8-128063569-CAT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128063572_128063573del , CM000670.2:g.128063572_128063573del
GRCh38
NC_000008.10:g.129075818_129075819del , CM000670.1:g.129075818_129075819del
GRCh37
NC_000008.9:g.129145000_129145001del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_003367.3:n.1213-6588_1213-6587del
Search 100 bp 5'
Search 100 bp 3'