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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:
CA2283682300
Gene: NDUFV2-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.9134358_9134359delinsGC , CM000680.2:g.9134358_9134359delinsGC
GRCh38
NC_000018.9:g.9134356_9134357delinsGC , CM000680.1:g.9134356_9134357delinsGC
GRCh37
NC_000018.8:g.9124356_9124357delinsGC
NCBI36
NG_013355.1:g.36729_36730delinsGC
NG_047134.1:g.2606_2607delinsGC
Transcript Alleles
HGVS
Amino-acid change
NR_110771.1:n.358-849_358-848delinsGC
NR_110772.1:n.358-849_358-848delinsGC
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