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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:
CA1085282807
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1762513672
gnomAD v3:
6-1610404-T-TG
gnomAD v4:
6-1610404-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610410dup , CM000668.2:g.1610410dup
GRCh38
NC_000006.11:g.1610645dup , CM000668.1:g.1610645dup
GRCh37
NC_000006.10:g.1555644dup
NCBI36
NG_009368.1:g.4965dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.-36dup
MANE Select
ENSP00000493906.1:n.-36dup
ENST00000380874.3:c.-36dup
ENSP00000370256.2:n.-36dup
NM_001453.3:c.-36dup
MANE Select
NP_001444.2:n.-36dup
Search 100 bp 5'
Search 100 bp 3'