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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:
CA301530140
Gene:
Linked Data
dbSNP Id:
rs951260555
gnomAD v3:
18-60373106-A-ATG
gnomAD v4:
18-60373106-A-ATG
MyVariant Identifiers:
chr18:g.58040339_58040340insTG (hg19)
chr18:g.60373106_60373107insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373116_60373117dup , CM000680.2:g.60373116_60373117dup
GRCh38
NC_000018.9:g.58040349_58040350dup , CM000680.1:g.58040349_58040350dup
GRCh37
NC_000018.8:g.56191329_56191330dup
NCBI36
NG_016441.1:g.4661_4662dup
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