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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:
CA783065675
Gene: NDUFV2-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1221543652
gnomAD v4:
18-9134361-CTG-C
MyVariant Identifiers:
chr18:g.9134360_9134361del (hg19)
chr18:g.9134362_9134363del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.9134365_9134366del , CM000680.2:g.9134365_9134366del
GRCh38
NC_000018.9:g.9134363_9134364del , CM000680.1:g.9134363_9134364del
GRCh37
NC_000018.8:g.9124363_9124364del
NCBI36
NG_013355.1:g.36736_36737del
NG_047134.1:g.2613_2614del
Transcript Alleles
HGVS
Amino-acid Change
NR_110771.1:n.358-853_358-852del
NR_110772.1:n.358-853_358-852del
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