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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:
CA2586973010
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945796_138945815dup , CM000665.2:g.138945796_138945815dup
GRCh38
NC_000003.11:g.138664638_138664657dup , CM000665.1:g.138664638_138664657dup
GRCh37
NC_000003.10:g.140147328_140147347dup
NCBI36
NG_012454.1:g.6333_6352dup
NG_029796.1:g.3563_3582dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.915_934dup
MANE Select
ENSP00000497217.1:p.His312ArgfsTer?
ENST00000330315.3:c.915_934dup
ENSP00000333188.3:p.His312ArgfsTer?
NM_023067.3:c.915_934dup
NP_075555.1:p.His312ArgfsTer?
NM_023067.4:c.915_934dup
MANE Select
NP_075555.1:p.His312ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'