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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:
CA752219757
Gene:
Linked Data
dbSNP Id:
rs1393384089
gnomAD v3:
22-28765000-T-TC
gnomAD v4:
22-28765000-T-TC
MyVariant Identifiers:
chr22:g.29160988_29160989insC (hg19)
chr22:g.28765000_28765001insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.28765003dup , CM000684.2:g.28765003dup
GRCh38
NC_000022.10:g.29160991dup , CM000684.1:g.29160991dup
GRCh37
NC_000022.9:g.27490991dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'