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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:
CA2579577205
Gene: NR0B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308154del , CM000685.2:g.30308154del
GRCh38
NC_000023.10:g.30326271del , CM000685.1:g.30326271del
GRCh37
NC_000023.9:g.30236192del
NCBI36
NG_009814.1:g.6228del
Transcript Alleles
HGVS
Amino-acid change
ENST00000378970.5:c.1168+45del
MANE Select
ENSP00000368253.4:n.1168+45del
ENST00000378963.1:c.283+45del
ENSP00000368246.1:n.283+45del
ENST00000378970.4:c.1168+45del
ENSP00000368253.4:n.1168+45del
NM_000475.4:c.1168+45del
NP_000466.2:n.1168+45del
NM_000475.5:c.1168+45del
MANE Select
NP_000466.2:n.1168+45del
Search 100 bp 5'
Search 100 bp 3'