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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:
CA778422757
Gene:
Linked Data
dbSNP Id:
rs1209525607
gnomAD v3:
18-31607387-G-GTC
gnomAD v4:
18-31607387-G-GTC
MyVariant Identifiers:
chr18:g.29187350_29187351insTC (hg19)
chr18:g.31607387_31607388insTC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31607397_31607398dup , CM000680.2:g.31607397_31607398dup
GRCh38
NC_000018.9:g.29187360_29187361dup , CM000680.1:g.29187360_29187361dup
GRCh37
NC_000018.8:g.27441358_27441359dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'