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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:
CA1139498903
Gene:
Linked Data
dbSNP Id:
rs2043651490
gnomAD v3:
Y-15670438-T-TA
gnomAD v4:
Y-15670438-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15670445dup , CM000686.2:g.15670445dup
GRCh38
NC_000024.9:g.17782325dup , CM000686.1:g.17782325dup
GRCh37
NC_000024.8:g.16291719dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'