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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:
CA185816193
Gene: PVT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs150359865
gnomAD v2:
8-129075799-G-GACAC
gnomAD v3:
8-128063553-G-GACAC
gnomAD v4:
8-128063553-G-GACAC
MyVariant Identifiers:
chr8:g.129075801_129075802insACAC (hg19)
chr8:g.129075799_129075800insACAC (hg19)
chr8:g.128063555_128063556insACAC (hg38)
chr8:g.128063553_128063554insACAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128063567_128063570dup , CM000670.2:g.128063567_128063570dup
GRCh38
NC_000008.10:g.129075813_129075816dup , CM000670.1:g.129075813_129075816dup
GRCh37
NC_000008.9:g.129144995_129144998dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_003367.3:n.1213-6593_1213-6590dup
Search 100 bp 5'
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