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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:
CA754315695
Gene:
Linked Data
dbSNP Id:
rs1384353094
MyVariant Identifiers:
chr2:g.103019792_103019793del (hg19)
chr2:g.102403332_102403333del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102403333_102403334del , CM000664.2:g.102403333_102403334del
GRCh38
NC_000002.11:g.103019793_103019794del , CM000664.1:g.103019793_103019794del
GRCh37
NC_000002.10:g.102386225_102386226del
NCBI36
Search 100 bp 5'
Search 100 bp 3'