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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:
CA2501536916
Gene: AHR
HGNC
NCBI
Linked Data
gnomAD v3:
7-17298539-TGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCTGGGCG-T
gnomAD v4:
7-17298539-TGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCTGGGCG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17298548_17298593del , CM000669.2:g.17298548_17298593del
GRCh38
NC_000007.13:g.17338172_17338217del , CM000669.1:g.17338172_17338217del
GRCh37
NC_000007.12:g.17304697_17304742del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.20+1924_20+1969del
ENSP00000495987.1:n.20+1924_20+1969del
Search 100 bp 5'
Search 100 bp 3'