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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
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Canonical Allele Identifier:
CA2283682304
Gene: NDUFV2-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.9134361_9134363delinsCTG , CM000680.2:g.9134361_9134363delinsCTG
GRCh38
NC_000018.9:g.9134359_9134361delinsCTG , CM000680.1:g.9134359_9134361delinsCTG
GRCh37
NC_000018.8:g.9124359_9124361delinsCTG
NCBI36
NG_013355.1:g.36732_36734delinsCTG
NG_047134.1:g.2609_2611delinsCTG
Transcript Alleles
HGVS
Amino-acid change
NR_110771.1:n.358-853_358-851delinsCAG
NR_110772.1:n.358-853_358-851delinsCAG
Search 100 bp 5'
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