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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:
CA2758614459
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945872_138945886del , CM000665.2:g.138945872_138945886del
GRCh38
NC_000003.11:g.138664714_138664728del , CM000665.1:g.138664714_138664728del
GRCh37
NC_000003.10:g.140147404_140147418del
NCBI36
NG_012454.1:g.6261_6275del
NG_029796.1:g.3639_3653del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.843_857del
MANE Select
ENSP00000497217.1:p.Ala282_Pro286del
ENST00000330315.3:c.843_857del
ENSP00000333188.3:p.Ala282_Pro286del
NM_023067.3:c.843_857del
NP_075555.1:p.Ala282_Pro286del
NM_023067.4:c.843_857del
MANE Select
NP_075555.1:p.Ala282_Pro286del
Search 100 bp 5'
Search 100 bp 3'