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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:
CA2513817436
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610303_1610319dup , CM000668.2:g.1610303_1610319dup
GRCh38
NC_000006.11:g.1610538_1610554dup , CM000668.1:g.1610538_1610554dup
GRCh37
NC_000006.10:g.1555537_1555553dup
NCBI36
NG_009368.1:g.4858_4874dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-143_-127dup
MANE Select
ENSP00000493906.1:n.-143_-127dup
ENST00000380874.3:c.-143_-127dup
ENSP00000370256.2:n.-143_-127dup
NM_001453.3:c.-143_-127dup
MANE Select
NP_001444.2:n.-143_-127dup
Search 100 bp 5'
Search 100 bp 3'