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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:
CA548469307
Gene:
Linked Data
dbSNP Id:
rs1190321920
gnomAD v2:
3-186579611-ATATATT-A
gnomAD v3:
3-186861822-ATATATT-A
gnomAD v4:
3-186861822-ATATATT-A
MyVariant Identifiers:
chr3:g.186579612_186579617del (hg19)
chr3:g.186861823_186861828del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861828_186861833del , CM000665.2:g.186861828_186861833del
GRCh38
NC_000003.11:g.186579617_186579622del , CM000665.1:g.186579617_186579622del
GRCh37
NC_000003.10:g.188062311_188062316del
NCBI36
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