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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:
CA2769749171
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1612769_1612770insAC , CM000668.2:g.1612769_1612770insAC
GRCh38
NC_000006.11:g.1613004_1613005insAC , CM000668.1:g.1613004_1613005insAC
GRCh37
NC_000006.10:g.1558003_1558004insAC
NCBI36
NG_009368.1:g.7324_7325insAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.*662_*663insAC
MANE Select
ENSP00000493906.1:n.*662_*663insAC
ENST00000380874.3:c.*662_*663insAC
ENSP00000370256.2:n.*662_*663insAC
NM_001453.2:c.2324_2325insAC
NP_001444.2:n.2324_2325insAC
NM_001453.3:c.*662_*663insAC
MANE Select
NP_001444.2:n.*662_*663insAC
Search 100 bp 5'
Search 100 bp 3'