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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:
CA2677060427
Gene: FOXC1
HGNC
NCBI
Linked Data
gnomAD v4:
6-1610438-C-CG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610443dup , CM000668.2:g.1610443dup
GRCh38
NC_000006.11:g.1610678dup , CM000668.1:g.1610678dup
GRCh37
NC_000006.10:g.1555677dup
NCBI36
NG_009368.1:g.4998dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-3dup
MANE Select
ENSP00000493906.1:n.-3dup
ENST00000380874.3:c.-3dup
ENSP00000370256.2:n.-3dup
NM_001453.3:c.-3dup
MANE Select
NP_001444.2:n.-3dup
Search 100 bp 5'
Search 100 bp 3'