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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:
CA2769751901
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610853_1610854insA , CM000668.2:g.1610853_1610854insA
GRCh38
NC_000006.11:g.1611088_1611089insA , CM000668.1:g.1611088_1611089insA
GRCh37
NC_000006.10:g.1556087_1556088insA
NCBI36
NG_009368.1:g.5408_5409insA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.408_409insA
MANE Select
ENSP00000493906.1:p.Val137SerfsTer?
ENST00000380874.3:c.408_409insA
ENSP00000370256.2:p.Val137SerfsTer?
NM_001453.2:c.408_409insA
NP_001444.2:p.Val137SerfsTer?
NM_001453.3:c.408_409insA
MANE Select
NP_001444.2:p.Val137SerfsTer?
Search 100 bp 5'
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