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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:
CA542704222
Gene:
Linked Data
dbSNP Id:
rs1300042747
gnomAD v2:
3-46345619-AATT-A
gnomAD v3:
3-46304128-AATT-A
gnomAD v4:
3-46304128-AATT-A
MyVariant Identifiers:
chr3:g.46345620_46345622del (hg19)
chr3:g.46304129_46304131del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.46304133_46304135del , CM000665.2:g.46304133_46304135del
GRCh38
NC_000003.11:g.46345624_46345626del , CM000665.1:g.46345624_46345626del
GRCh37
NC_000003.10:g.46320628_46320630del
NCBI36
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