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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:
CA1605822296
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1762514362
gnomAD v4:
6-1610438-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610443del , CM000668.2:g.1610443del
GRCh38
NC_000006.11:g.1610678del , CM000668.1:g.1610678del
GRCh37
NC_000006.10:g.1555677del
NCBI36
NG_009368.1:g.4998del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-3del
MANE Select
ENSP00000493906.1:n.-3del
ENST00000380874.3:c.-3del
ENSP00000370256.2:n.-3del
NM_001453.3:c.-3del
MANE Select
NP_001444.2:n.-3del
Search 100 bp 5'
Search 100 bp 3'