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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:
CA2695232183
Gene: NR0B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308484_30308534del , CM000685.2:g.30308484_30308534del
GRCh38
NC_000023.10:g.30326601_30326651del , CM000685.1:g.30326601_30326651del
GRCh37
NC_000023.9:g.30236522_30236572del
NCBI36
NG_009814.1:g.5849_5899del
Transcript Alleles
HGVS
Amino-acid change
ENST00000378970.5:c.834_884del
MANE Select
ENSP00000368253.4:p.Pro279_Leu295del
ENST00000378970.4:c.834_884del
ENSP00000368253.4:p.Pro279_Leu295del
NM_000475.4:c.834_884del
NP_000466.2:p.Pro279_Leu295del
NM_000475.5:c.834_884del
MANE Select
NP_000466.2:p.Pro279_Leu295del
Search 100 bp 5'
Search 100 bp 3'