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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:
CA2578515721
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610386_1610387del , CM000668.2:g.1610386_1610387del
GRCh38
NC_000006.11:g.1610621_1610622del , CM000668.1:g.1610621_1610622del
GRCh37
NC_000006.10:g.1555620_1555621del
NCBI36
NG_009368.1:g.4941_4942del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-60_-59del
MANE Select
ENSP00000493906.1:n.-60_-59del
ENST00000380874.3:c.-60_-59del
ENSP00000370256.2:n.-60_-59del
NM_001453.3:c.-60_-59del
MANE Select
NP_001444.2:n.-60_-59del
Search 100 bp 5'
Search 100 bp 3'