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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:
CA1605822160
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610277_1610278delinsAG , CM000668.2:g.1610277_1610278delinsAG
GRCh38
NC_000006.11:g.1610512_1610513delinsAG , CM000668.1:g.1610512_1610513delinsAG
GRCh37
NC_000006.10:g.1555511_1555512delinsAG
NCBI36
NG_009368.1:g.4832_4833delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-169_-168delinsAG
MANE Select
ENSP00000493906.1:n.-169_-168delinsAG
ENST00000380874.3:c.-169_-168delinsAG
ENSP00000370256.2:n.-169_-168delinsAG
NM_001453.3:c.-169_-168delinsAG
MANE Select
NP_001444.2:n.-169_-168delinsAG
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