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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:
CA2739290473
Gene: NR0B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308516_30308533dup , CM000685.2:g.30308516_30308533dup
GRCh38
NC_000023.10:g.30326633_30326650dup , CM000685.1:g.30326633_30326650dup
GRCh37
NC_000023.9:g.30236554_30236571dup
NCBI36
NG_009814.1:g.5850_5867dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000378970.5:c.835_852dup
MANE Select
ENSP00000368253.4:p.Leu284_Val285insProLe...
ENST00000378970.4:c.835_852dup
ENSP00000368253.4:p.Leu284_Val285insProLe...
NM_000475.4:c.835_852dup
NP_000466.2:p.Leu284_Val285insProLeuAspGl...
NM_000475.5:c.835_852dup
MANE Select
NP_000466.2:p.Leu284_Val285insProLeuAspGl...
Search 100 bp 5'
Search 100 bp 3'