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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:
CA302918609
Gene:
Linked Data
dbSNP Id:
rs3081916
gnomAD v2:
18-74899827-T-TTG
gnomAD v3:
18-77187871-T-TTG
gnomAD v4:
18-77187871-T-TTG
MyVariant Identifiers:
chr18:g.74899827_74899828insTG (hg19)
chr18:g.77187871_77187872insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77187893_77187894dup , CM000680.2:g.77187893_77187894dup
GRCh38
NC_000018.9:g.74899849_74899850dup , CM000680.1:g.74899849_74899850dup
GRCh37
NC_000018.8:g.73028837_73028838dup
NCBI36
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