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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:
CA2546597179
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1612728del , CM000668.2:g.1612728del
GRCh38
NC_000006.11:g.1612963del , CM000668.1:g.1612963del
GRCh37
NC_000006.10:g.1557962del
NCBI36
NG_009368.1:g.7283del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.*621del
MANE Select
ENSP00000493906.1:n.*621del
ENST00000380874.3:c.*621del
ENSP00000370256.2:n.*621del
NM_001453.2:c.2283del
NP_001444.2:n.2283del
NM_001453.3:c.*621del
MANE Select
NP_001444.2:n.*621del
Search 100 bp 5'
Search 100 bp 3'