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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:
CA191701676
Gene:
Linked Data
dbSNP Id:
rs914265566
gnomAD v3:
9-25551195-A-AATAC
gnomAD v4:
9-25551195-A-AATAC
MyVariant Identifiers:
chr9:g.25551193_25551194insATAC (hg19)
chr9:g.25551195_25551196insATAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.25551197_25551200dup , CM000671.2:g.25551197_25551200dup
GRCh38
NC_000009.11:g.25551195_25551198dup , CM000671.1:g.25551195_25551198dup
GRCh37
NC_000009.10:g.25541195_25541198dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_929525.1:n.50-627_50-624dup
XR_929525.2:n.674-627_674-624dup
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