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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:
CA2570803725
Gene: NDUFA11
HGNC
NCBI
Linked Data
gnomAD v4:
19-5903909-GAGAGT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.5903912_5903916del , CM000681.2:g.5903912_5903916del
GRCh38
NC_000019.9:g.5903923_5903927del , CM000681.1:g.5903923_5903927del
GRCh37
NC_000019.8:g.5854923_5854927del
NCBI36
NG_027808.1:g.5100_5104del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000591160.1:n.93_97del
NM_001193375.1:c.-206_-202del
NP_001180304.1:n.-206_-202del
NM_175614.4:c.-206_-202del
NP_783313.1:n.-206_-202del
NR_034166.2:n.100_104del
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