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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:
CA2690187490
Gene: FXN
HGNC
NCBI
Linked Data
gnomAD v4:
9-69035623-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.69035628del , CM000671.2:g.69035628del
GRCh38
NC_000009.11:g.71650544del , CM000671.1:g.71650544del
GRCh37
NC_000009.10:g.70840364del
NCBI36
NG_008845.2:g.5066del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000377270.7:c.-155del
ENSP00000366482.3:n.-155del
ENST00000396364.7:c.-155del
ENSP00000379650.3:n.-155del
NM_000144.4:c.-155del
NP_000135.2:n.-155del
NM_001161706.1:c.-155del
NP_001155178.1:n.-155del
NM_181425.2:c.-155del
NP_852090.1:n.-155del
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