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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:
CA2610910326
Gene: ADRA2A
HGNC
NCBI
Linked Data
gnomAD v4:
10-111079621-C-CCTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.111079621_111079622insCTG , CM000672.2:g.111079621_111079622insCTG
GRCh38
NC_000010.10:g.112839379_112839380insCTG , CM000672.1:g.112839379_112839380insCTG
GRCh37
NC_000010.9:g.112829369_112829370insCTG
NCBI36
NG_012020.1:g.7590_7591insCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000280155.4:c.*227_*228insCTG
MANE Select
ENSP00000280155.2:n.*227_*228insCTG
ENST00000280155.3:c.*227_*228insCTG
ENSP00000280155.2:n.*227_*228insCTG
NM_000681.3:c.*227_*228insCTG
NP_000672.3:n.*227_*228insCTG
NM_000681.4:c.*227_*228insCTG
MANE Select
NP_000672.3:n.*227_*228insCTG
Search 100 bp 5'
Search 100 bp 3'