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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:
CA1078753737
Gene:
Linked Data
dbSNP Id:
rs1744565153
gnomAD v3:
5-92222861-ATC-A
gnomAD v4:
5-92222861-ATC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222865_92222866del , CM000667.2:g.92222865_92222866del
GRCh38
NC_000005.9:g.91518682_91518683del , CM000667.1:g.91518682_91518683del
GRCh37
NC_000005.8:g.91554438_91554439del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18181_394+18182del
Search 100 bp 5'
Search 100 bp 3'