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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:
CA2571551718
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945851_138945867dup , CM000665.2:g.138945851_138945867dup
GRCh38
NC_000003.11:g.138664693_138664709dup , CM000665.1:g.138664693_138664709dup
GRCh37
NC_000003.10:g.140147383_140147399dup
NCBI36
NG_012454.1:g.6276_6292dup
NG_029796.1:g.3618_3634dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.858_874dup
MANE Select
ENSP00000497217.1:p.Pro292LeufsTer?
ENST00000330315.3:c.858_874dup
ENSP00000333188.3:p.Pro292LeufsTer?
NM_023067.3:c.858_874dup
NP_075555.1:p.Pro292LeufsTer?
NM_023067.4:c.858_874dup
MANE Select
NP_075555.1:p.Pro292LeufsTer?
Search 100 bp 5'
Search 100 bp 3'