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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:
CA2693383144
Gene: NR0B1
HGNC
NCBI
Linked Data
gnomAD v4:
X-30308161-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308164del , CM000685.2:g.30308164del
GRCh38
NC_000023.10:g.30326281del , CM000685.1:g.30326281del
GRCh37
NC_000023.9:g.30236202del
NCBI36
NG_009814.1:g.6217del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378970.5:c.1168+34del
MANE Select
ENSP00000368253.4:n.1168+34del
ENST00000378963.1:c.283+34del
ENSP00000368246.1:n.283+34del
ENST00000378970.4:c.1168+34del
ENSP00000368253.4:n.1168+34del
NM_000475.4:c.1168+34del
NP_000466.2:n.1168+34del
NM_000475.5:c.1168+34del
MANE Select
NP_000466.2:n.1168+34del
Search 100 bp 5'
Search 100 bp 3'