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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:
CA2768445551
Gene: UQCRQ
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132868802dup , CM000667.2:g.132868802dup
GRCh38
NC_000005.9:g.132204494dup , CM000667.1:g.132204494dup
GRCh37
NC_000005.8:g.132232393dup
NCBI36
NG_012221.1:g.7176dup
NG_047051.1:g.3085dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000378670.8:c.*1220dup
MANE Select
ENSP00000367939.3:n.*1220dup
NM_014402.4:c.*1220dup
NP_055217.2:n.*1220dup
NM_014402.5:c.*1220dup
MANE Select
NP_055217.2:n.*1220dup
Search 100 bp 5'
Search 100 bp 3'