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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:
CA2586973030
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946083_138946089del , CM000665.2:g.138946083_138946089del
GRCh38
NC_000003.11:g.138664925_138664931del , CM000665.1:g.138664925_138664931del
GRCh37
NC_000003.10:g.140147615_140147621del
NCBI36
NG_012454.1:g.6054_6060del
NG_029796.1:g.3850_3856del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.636_642del
MANE Select
ENSP00000497217.1:p.Tyr215ProfsTer?
ENST00000330315.3:c.636_642del
ENSP00000333188.3:p.Tyr215ProfsTer?
NM_023067.3:c.636_642del
NP_075555.1:p.Tyr215ProfsTer?
NM_023067.4:c.636_642del
MANE Select
NP_075555.1:p.Tyr215ProfsTer?
Search 100 bp 5'
Search 100 bp 3'