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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:
CA1028006339
Gene:
Linked Data
dbSNP Id:
rs1673968487
gnomAD v3:
2-17843962-CCACA-C
gnomAD v4:
2-17843962-CCACA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17843963_17843966del , CM000664.2:g.17843963_17843966del
GRCh38
NC_000002.11:g.18025230_18025233del , CM000664.1:g.18025230_18025233del
GRCh37
NC_000002.10:g.17888711_17888714del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939764.2:n.447+3728_447+3731del
Search 100 bp 5'
Search 100 bp 3'