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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:
CA520642661
Gene:
Linked Data
dbSNP Id:
rs1553124717
gnomAD v2:
1-1967921-CG-C
gnomAD v3:
1-2036482-CG-C
gnomAD v4:
1-2036482-CG-C
MyVariant Identifiers:
chr1:g.1967922del (hg19)
chr1:g.2036483del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2036486del , CM000663.2:g.2036486del
GRCh38
NC_000001.10:g.1967925del , CM000663.1:g.1967925del
GRCh37
NC_000001.9:g.1957785del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946823.1:n.725del
XR_001737845.2:n.728del
XR_946823.3:n.728del
Search 100 bp 5'
Search 100 bp 3'