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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
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Canonical Allele Identifier:
CA2198002973
Gene: NR2F2
HGNC
NCBI
NR2F2-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.96326273C= , CM000677.2:g.96326273C=
GRCh38
NC_000015.9:g.96869502C= , CM000677.1:g.96869502C=
GRCh37
NC_000015.8:g.94670506C=
NCBI36
NG_016753.1:g.5346C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000421109.6:c.-37C=
(NR2F2)
ENSP00000401674.2:n.-37C=
NM_001145155.1:c.-37C=
(NR2F2)
NP_001138627.1:n.-37C=
NR_102743.1:n.163+926G=
(NR2F2-AS1)
NR_102744.1:n.163+926G=
(NR2F2-AS1)
NR_125738.1:n.163+683G=
(NR2F2-AS1)
NM_001145155.2:c.-37C=
(NR2F2)
NP_001138627.1:n.-37C=
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