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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:
CA1139499501
Gene:
Linked Data
dbSNP Id:
rs2044276375
gnomAD v3:
Y-17086399-C-CT
gnomAD v4:
Y-17086399-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086402dup , CM000686.2:g.17086402dup
GRCh38
NC_000024.9:g.19198282dup , CM000686.1:g.19198282dup
GRCh37
NC_000024.8:g.17707676dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'