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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:
CA836234356
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1409097339
MyVariant Identifiers:
chr7:g.17309189_17309190del (hg19)
chr7:g.17269565_17269566del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17269566_17269567del , CM000669.2:g.17269566_17269567del
GRCh38
NC_000007.13:g.17309190_17309191del , CM000669.1:g.17309190_17309191del
GRCh37
NC_000007.12:g.17275715_17275716del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000642825.1:c.-203+21840_-203+21841del
ENSP00000495987.1:n.-203+21840_-203+21841del
XR_927073.2:n.785-10238_785-10237del
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