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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:
CA2577918193
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945886del , CM000665.2:g.138945886del
GRCh38
NC_000003.11:g.138664728del , CM000665.1:g.138664728del
GRCh37
NC_000003.10:g.140147418del
NCBI36
NG_012454.1:g.6257del
NG_029796.1:g.3653del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.839del
MANE Select
ENSP00000497217.1:p.Pro280ArgfsTer?
ENST00000330315.3:c.839del
ENSP00000333188.3:p.Pro280ArgfsTer?
NM_023067.3:c.839del
NP_075555.1:p.Pro280ArgfsTer?
NM_023067.4:c.839del
MANE Select
NP_075555.1:p.Pro280ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'