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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:
CA731778812
Gene:
Linked Data
dbSNP Id:
rs1411720434
MyVariant Identifiers:
chr1:g.220664976_220664986del (hg19)
chr1:g.220491634_220491644del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220491636_220491646del , CM000663.2:g.220491636_220491646del
GRCh38
NC_000001.10:g.220664978_220664988del , CM000663.1:g.220664978_220664988del
GRCh37
NC_000001.9:g.218731601_218731611del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_922615.1:n.256-598_256-588del
XR_001737822.1:n.557-598_557-588del
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