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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:
CA1691291704
Gene: AHR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285398_17285400delinsCAA , CM000669.2:g.17285398_17285400delinsCAA
GRCh38
NC_000007.13:g.17325022_17325024delinsCAA , CM000669.1:g.17325022_17325024delinsCAA
GRCh37
NC_000007.12:g.17291547_17291549delinsCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10899_-202-10897delinsCAA
ENSP00000495987.1:n.-202-10899_-202-10897delinsCAA
XR_927069.1:n.567+843_567+845delinsTTG
XR_927070.1:n.567+843_567+845delinsTTG
XR_927071.1:n.567+843_567+845delinsTTG
XR_927072.1:n.568+843_568+845delinsTTG
XR_927073.2:n.711+843_711+845delinsTTG
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