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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:
CA1605822143
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1762510709
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610260_1610281del , CM000668.2:g.1610260_1610281del
GRCh38
NC_000006.11:g.1610495_1610516del , CM000668.1:g.1610495_1610516del
GRCh37
NC_000006.10:g.1555494_1555515del
NCBI36
NG_009368.1:g.4815_4836del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-186_-165del
MANE Select
ENSP00000493906.1:n.-186_-165del
ENST00000380874.3:c.-186_-165del
ENSP00000370256.2:n.-186_-165del
NM_001453.3:c.-186_-165del
MANE Select
NP_001444.2:n.-186_-165del
Search 100 bp 5'
Search 100 bp 3'