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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:
CA1098893959
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1781753144
gnomAD v3:
7-17285492-T-TA
gnomAD v4:
7-17285492-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285492_17285493insA , CM000669.2:g.17285492_17285493insA
GRCh38
NC_000007.13:g.17325116_17325117insA , CM000669.1:g.17325116_17325117insA
GRCh37
NC_000007.12:g.17291641_17291642insA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10805_-202-10804insA
ENSP00000495987.1:n.-202-10805_-202-10804insA
XR_927069.1:n.567+750_567+751insT
XR_927070.1:n.567+750_567+751insT
XR_927071.1:n.567+750_567+751insT
XR_927072.1:n.568+750_568+751insT
XR_927073.2:n.711+750_711+751insT
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