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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:
CA154826863
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs995638342
gnomAD v2:
7-17325161-TG-T
gnomAD v3:
7-17285537-TG-T
gnomAD v4:
7-17285537-TG-T
MyVariant Identifiers:
chr7:g.17325162del (hg19)
chr7:g.17285538del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285542del , CM000669.2:g.17285542del
GRCh38
NC_000007.13:g.17325166del , CM000669.1:g.17325166del
GRCh37
NC_000007.12:g.17291691del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000642825.1:c.-202-10755del
ENSP00000495987.1:n.-202-10755del
XR_927069.1:n.567+705del
XR_927070.1:n.567+705del
XR_927071.1:n.567+705del
XR_927072.1:n.568+705del
XR_927073.2:n.711+705del
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