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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:
CA2577918189
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945808_138945810dup , CM000665.2:g.138945808_138945810dup
GRCh38
NC_000003.11:g.138664650_138664652dup , CM000665.1:g.138664650_138664652dup
GRCh37
NC_000003.10:g.140147340_140147342dup
NCBI36
NG_012454.1:g.6336_6338dup
NG_029796.1:g.3575_3577dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.918_920dup
MANE Select
ENSP00000497217.1:p.Pro307_Ala308insPro
ENST00000330315.3:c.918_920dup
ENSP00000333188.3:p.Pro307_Ala308insPro
NM_023067.3:c.918_920dup
NP_075555.1:p.Pro307_Ala308insPro
NM_023067.4:c.918_920dup
MANE Select
NP_075555.1:p.Pro307_Ala308insPro
Search 100 bp 5'
Search 100 bp 3'