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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:
CA133388852
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs988663317
gnomAD v2:
6-1610512-AG-A
gnomAD v3:
6-1610277-AG-A
gnomAD v4:
6-1610277-AG-A
MyVariant Identifiers:
chr6:g.1610513del (hg19)
chr6:g.1610278del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610278del , CM000668.2:g.1610278del
GRCh38
NC_000006.11:g.1610513del , CM000668.1:g.1610513del
GRCh37
NC_000006.10:g.1555512del
NCBI36
NG_009368.1:g.4833del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-168del
MANE Select
ENSP00000493906.1:n.-168del
ENST00000380874.3:c.-168del
ENSP00000370256.2:n.-168del
NM_001453.3:c.-168del
MANE Select
NP_001444.2:n.-168del
Search 100 bp 5'
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