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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:
CA2681910918
Gene: AHR
HGNC
NCBI
Linked Data
gnomAD v4:
7-17298422-A-AAT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17298424_17298425dup , CM000669.2:g.17298424_17298425dup
GRCh38
NC_000007.13:g.17338048_17338049dup , CM000669.1:g.17338048_17338049dup
GRCh37
NC_000007.12:g.17304573_17304574dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000642825.1:c.20+1800_20+1801dup
ENSP00000495987.1:n.20+1800_20+1801dup
XR_927069.1:n.113_114dup
XR_927070.1:n.113_114dup
XR_927071.1:n.113_114dup
XR_927072.1:n.114_115dup
XR_927073.1:n.115_116dup
XR_927073.2:n.115_116dup
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