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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:
CA836195732
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs771944561
MyVariant Identifiers:
chr7:g.17325116_17325117del (hg19)
chr7:g.17285492_17285493del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285500_17285501del , CM000669.2:g.17285500_17285501del
GRCh38
NC_000007.13:g.17325124_17325125del , CM000669.1:g.17325124_17325125del
GRCh37
NC_000007.12:g.17291649_17291650del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10797_-202-10796del
ENSP00000495987.1:n.-202-10797_-202-10796del
XR_927069.1:n.567+750_567+751del
XR_927070.1:n.567+750_567+751del
XR_927071.1:n.567+750_567+751del
XR_927072.1:n.568+750_568+751del
XR_927073.2:n.711+750_711+751del
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