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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:
CA2690904631
Gene: FOXE1
HGNC
NCBI
Linked Data
gnomAD v4:
9-97853892-C-CG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97853897dup , CM000671.2:g.97853897dup
GRCh38
NC_000009.11:g.100616179dup , CM000671.1:g.100616179dup
GRCh37
NC_000009.10:g.99656000dup
NCBI36
NG_011979.1:g.5643dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000375123.5:c.-18dup
MANE Select
ENSP00000364265.3:n.-18dup
ENST00000375123.4:c.-18dup
ENSP00000364265.3:n.-18dup
NM_004473.3:c.-18dup
NP_004464.2:n.-18dup
NM_004473.4:c.-18dup
MANE Select
NP_004464.2:n.-18dup
Search 100 bp 5'
Search 100 bp 3'