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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
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Canonical Allele Identifier:
CA617692146
Gene:
Linked Data
dbSNP Id:
rs1164901263
gnomAD v2:
15-45641111-A-AGGGAGAGGCAGGTCTTGGGAGAAGCATCAGAAGTTCAGTTT
gnomAD v3:
15-45348913-A-AGGGAGAGGCAGGTCTTGGGAGAAGCATCAGAAGTTCAGTTT
gnomAD v4:
15-45348913-A-AGGGAGAGGCAGGTCTTGGGAGAAGCATCAGAAGTTCAGTTT
MyVariant Identifiers:
chr15:g.45641111_45641112insGGGAGAGGCAGGTCTTGGGAGAAGCATCAGAAGTTCAGTTT (hg19)
chr15:g.45348913_45348914insGGGAGAGGCAGGTCTTGGGAGAAGCATCAGAAGTTCAGTTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.45348918_45348958dup , CM000677.2:g.45348918_45348958dup
GRCh38
NC_000015.9:g.45641116_45641156dup , CM000677.1:g.45641116_45641156dup
GRCh37
NC_000015.8:g.43428408_43428448dup
NCBI36
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