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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:
CA1691291709
Gene: AHR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285402_17285404delinsAAG , CM000669.2:g.17285402_17285404delinsAAG
GRCh38
NC_000007.13:g.17325026_17325028delinsAAG , CM000669.1:g.17325026_17325028delinsAAG
GRCh37
NC_000007.12:g.17291551_17291553delinsAAG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10895_-202-10893delinsAAG
ENSP00000495987.1:n.-202-10895_-202-10893delinsAAG
XR_927069.1:n.567+839_567+841delinsCTT
XR_927070.1:n.567+839_567+841delinsCTT
XR_927071.1:n.567+839_567+841delinsCTT
XR_927072.1:n.568+839_568+841delinsCTT
XR_927073.2:n.711+839_711+841delinsCTT
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