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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:
CA1691291710
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1781752182
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285403_17285404del , CM000669.2:g.17285403_17285404del
GRCh38
NC_000007.13:g.17325027_17325028del , CM000669.1:g.17325027_17325028del
GRCh37
NC_000007.12:g.17291552_17291553del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10894_-202-10893del
ENSP00000495987.1:n.-202-10894_-202-10893del
XR_927069.1:n.567+839_567+840del
XR_927070.1:n.567+839_567+840del
XR_927071.1:n.567+839_567+840del
XR_927072.1:n.568+839_568+840del
XR_927073.2:n.711+839_711+840del
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