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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:
CA2697556889
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2748834
ClinVar RCV Id:
RCV003566176
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945843del , CM000665.2:g.138945843del
GRCh38
NC_000003.11:g.138664685del , CM000665.1:g.138664685del
GRCh37
NC_000003.10:g.140147375del
NCBI36
NG_012454.1:g.6299del
NG_029796.1:g.3610del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.881del
MANE Select
ENSP00000497217.1:p.Pro294ArgfsTer?
ENST00000330315.3:c.881del
ENSP00000333188.3:p.Pro294ArgfsTer?
NM_023067.3:c.881del
NP_075555.1:p.Pro294ArgfsTer?
NM_023067.4:c.881del
MANE Select
NP_075555.1:p.Pro294ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'