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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:
CA2587725822
Gene: NDUFA11
HGNC
NCBI
Linked Data
gnomAD v4:
19-5903924-ATC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.5903925_5903926del , CM000681.2:g.5903925_5903926del
GRCh38
NC_000019.9:g.5903936_5903937del , CM000681.1:g.5903936_5903937del
GRCh37
NC_000019.8:g.5854936_5854937del
NCBI36
NG_027808.1:g.5088_5089del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000591160.1:n.81_82del
NM_001193375.1:c.-218_-217del
NP_001180304.1:n.-218_-217del
NM_175614.4:c.-218_-217del
NP_783313.1:n.-218_-217del
NR_034166.2:n.88_89del
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