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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:
CA2711378411
Gene: HLA-DOA
HGNC
NCBI
Linked Data
dbSNP Id:
rs2127547666
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33004530C>T , CM000668.2:g.33004530C>T
GRCh38
NC_000006.11:g.32972307C>T , CM000668.1:g.32972307C>T
GRCh37
NC_000006.10:g.33080285C>T
NCBI36
NG_012007.1:g.10083G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000229829.7:c.*2308G>A
MANE Select
ENSP00000229829.3:n.*2308G>A
ENST00000229829.6:c.*2308G>A
ENSP00000229829.3:n.*2308G>A
NM_002119.3:c.*2308G>A
NP_002110.1:n.*2308G>A
NM_002119.4:c.*2308G>A
MANE Select
NP_002110.1:n.*2308G>A
Search 100 bp 5'
Search 100 bp 3'