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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:
CA783065657
Gene: NDUFV2-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1471410050
gnomAD v3:
18-9134358-GC-G
gnomAD v4:
18-9134358-GC-G
MyVariant Identifiers:
chr18:g.9134357del (hg19)
chr18:g.9134359del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.9134359del , CM000680.2:g.9134359del
GRCh38
NC_000018.9:g.9134357del , CM000680.1:g.9134357del
GRCh37
NC_000018.8:g.9124357del
NCBI36
NG_013355.1:g.36730del
NG_047134.1:g.2607del
Transcript Alleles
HGVS
Amino-acid Change
NR_110771.1:n.358-849del
NR_110772.1:n.358-849del
Search 100 bp 5'
Search 100 bp 3'