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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:
CA2587725820
Gene: NDUFA11
HGNC
NCBI
Linked Data
gnomAD v4:
19-5903924-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.5903924_5903925insC , CM000681.2:g.5903924_5903925insC
GRCh38
NC_000019.9:g.5903935_5903936insC , CM000681.1:g.5903935_5903936insC
GRCh37
NC_000019.8:g.5854935_5854936insC
NCBI36
NG_027808.1:g.5089_5090insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000591160.1:n.82_83insG
NM_001193375.1:c.-217_-216insG
NP_001180304.1:n.-217_-216insG
NM_175614.4:c.-217_-216insG
NP_783313.1:n.-217_-216insG
NR_034166.2:n.89_90insG
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