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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:
CA742189402
Gene:
Linked Data
dbSNP Id:
rs1463970349
gnomAD v3:
20-22587309-CAG-C
gnomAD v4:
20-22587309-CAG-C
MyVariant Identifiers:
chr20:g.22567948_22567949del (hg19)
chr20:g.22587310_22587311del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.22587312_22587313del , CM000682.2:g.22587312_22587313del
GRCh38
NC_000020.10:g.22567950_22567951del , CM000682.1:g.22567950_22567951del
GRCh37
NC_000020.9:g.22515950_22515951del
NCBI36
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