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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:
CA2695232187
Gene: NR0B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308515_30308516delinsGG , CM000685.2:g.30308515_30308516delinsGG
GRCh38
NC_000023.10:g.30326632_30326633delinsGG , CM000685.1:g.30326632_30326633delinsGG
GRCh37
NC_000023.9:g.30236553_30236554delinsGG
NCBI36
NG_009814.1:g.5863_5864delinsCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000378970.5:c.848_849delinsCC
MANE Select
ENSP00000368253.4:p.Gln283Pro
ENST00000378970.4:c.848_849delinsCC
ENSP00000368253.4:p.Gln283Pro
NM_000475.4:c.848_849delinsCC
NP_000466.2:p.Gln283Pro
NM_000475.5:c.848_849delinsCC
MANE Select
NP_000466.2:p.Gln283Pro
Search 100 bp 5'
Search 100 bp 3'