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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:
CA2710040036
Gene: UQCRQ
HGNC
NCBI
Linked Data
dbSNP Id:
rs67367845
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132868757dup , CM000667.2:g.132868757dup
GRCh38
NC_000005.9:g.132204449dup , CM000667.1:g.132204449dup
GRCh37
NC_000005.8:g.132232348dup
NCBI36
NG_012221.1:g.7131dup
NG_047051.1:g.3129dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378670.8:c.*1175dup
MANE Select
ENSP00000367939.3:n.*1175dup
NM_014402.4:c.*1175dup
NP_055217.2:n.*1175dup
NM_014402.5:c.*1175dup
MANE Select
NP_055217.2:n.*1175dup
Search 100 bp 5'
Search 100 bp 3'