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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:
CA1605822207
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1762512075
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610352_1610376del , CM000668.2:g.1610352_1610376del
GRCh38
NC_000006.11:g.1610587_1610611del , CM000668.1:g.1610587_1610611del
GRCh37
NC_000006.10:g.1555586_1555610del
NCBI36
NG_009368.1:g.4907_4931del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.-94_-70del
MANE Select
ENSP00000493906.1:n.-94_-70del
ENST00000380874.3:c.-94_-70del
ENSP00000370256.2:n.-94_-70del
NM_001453.3:c.-94_-70del
MANE Select
NP_001444.2:n.-94_-70del
Search 100 bp 5'
Search 100 bp 3'