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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:
CA2580074186
Gene: FOXC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2018387
ClinVar RCV Id:
RCV002870799
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610618del , CM000668.2:g.1610618del
GRCh38
NC_000006.11:g.1610853del , CM000668.1:g.1610853del
GRCh37
NC_000006.10:g.1555852del
NCBI36
NG_009368.1:g.5173del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.173del
MANE Select
ENSP00000493906.1:p.Gly58AlafsTer20
ENST00000380874.3:c.173del
ENSP00000370256.2:p.Gly58AlafsTer20
NM_001453.2:c.173del
NP_001444.2:p.Gly58AlafsTer20
NM_001453.3:c.173del
MANE Select
NP_001444.2:p.Gly58AlafsTer20
Search 100 bp 5'
Search 100 bp 3'