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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:
CA2578515700
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610352_1610357dup , CM000668.2:g.1610352_1610357dup
GRCh38
NC_000006.11:g.1610587_1610592dup , CM000668.1:g.1610587_1610592dup
GRCh37
NC_000006.10:g.1555586_1555591dup
NCBI36
NG_009368.1:g.4907_4912dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-94_-89dup
MANE Select
ENSP00000493906.1:n.-94_-89dup
ENST00000380874.3:c.-94_-89dup
ENSP00000370256.2:n.-94_-89dup
NM_001453.3:c.-94_-89dup
MANE Select
NP_001444.2:n.-94_-89dup
Search 100 bp 5'
Search 100 bp 3'