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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:
CA1691303616
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1781907306
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17298425_17298426del , CM000669.2:g.17298425_17298426del
GRCh38
NC_000007.13:g.17338049_17338050del , CM000669.1:g.17338049_17338050del
GRCh37
NC_000007.12:g.17304574_17304575del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000642825.1:c.20+1801_20+1802del
ENSP00000495987.1:n.20+1801_20+1802del
XR_927069.1:n.111_112del
XR_927070.1:n.111_112del
XR_927071.1:n.111_112del
XR_927072.1:n.112_113del
XR_927073.1:n.113_114del
XR_927073.2:n.113_114del
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