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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:
CA1405402471
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946338_138946339delinsTC , CM000665.2:g.138946338_138946339delinsTC
GRCh38
NC_000003.11:g.138665180_138665181delinsTC , CM000665.1:g.138665180_138665181delinsTC
GRCh37
NC_000003.10:g.140147870_140147871delinsTC
NCBI36
NG_012454.1:g.5802_5803delinsGA
NG_029796.1:g.4105_4106delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.384_385delinsGA
MANE Select
ENSP00000497217.1:p.Trp128=
ENST00000330315.3:c.384_385delinsGA
ENSP00000333188.3:p.Trp128=
NM_023067.3:c.384_385delinsGA
NP_075555.1:p.Trp128=
NM_023067.4:c.384_385delinsGA
MANE Select
NP_075555.1:p.Trp128=
Search 100 bp 5'
Search 100 bp 3'