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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:
CA747750428
Gene:
Linked Data
dbSNP Id:
rs1352892642
MyVariant Identifiers:
chr21:g.22355754_22355755insA (hg19)
chr21:g.20983436_20983437insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20983441dup , CM000683.2:g.20983441dup
GRCh38
NC_000021.8:g.22355759dup , CM000683.1:g.22355759dup
GRCh37
NC_000021.7:g.21277630dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'