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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:
CA2586973014
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945851dup , CM000665.2:g.138945851dup
GRCh38
NC_000003.11:g.138664693dup , CM000665.1:g.138664693dup
GRCh37
NC_000003.10:g.140147383dup
NCBI36
NG_012454.1:g.6290dup
NG_029796.1:g.3618dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.872dup
MANE Select
ENSP00000497217.1:p.His291GlnfsTer?
ENST00000330315.3:c.872dup
ENSP00000333188.3:p.His291GlnfsTer?
NM_023067.3:c.872dup
NP_075555.1:p.His291GlnfsTer?
NM_023067.4:c.872dup
MANE Select
NP_075555.1:p.His291GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'